Publikationen

2018


Luciani A, Festa BP, Chen Z, Devuyst O (2018). Defective autophagy degradation and abnormal tight junction-associated signaling drive epithelial dysfunction in cystinosis. Autophagy [Epub ahead of print].


Stellacci E, Steindl K, Joset P, Mercurio L, Anselmi M, Cecchetti S, Gogoll L, Zweier M, Hackenberg A, Bocchinfuso G, Stella L, Tartaglia M, Rauch A (2018). Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose Syndrome. Hum Mutat [Epub ahead of print].


Devuyst O, Pattaro C (2018). The UMOD locus: insights into the pathogenesis and prognosis of kidney disease. J Am Soc Nephrol [Epub ahead of print].


Corre T, Arjona FJ, Hayward C, Youhanna S, de Baaij JHF, Belge H, Nägele N, Debaix H, Blanchard MG, Traglia M, Harris SE, Ulivi S, Rueedi R, Lamparter D, Macé A, Sala C, Lenarduzzi S, Ponte B, Pruijm M, Ackermann D, Ehret G, Baptista D, Polasek O, Rudan I, Hurd TW, Hastie ND, Vitart V, Waeber G, Kutalik Z, Bergmann S, Vargas-Poussou R, Konrad M, Gasparini P, Deary IJ, Starr JM, Toniolo D, Vollenweider P, Hoenderop JGJ, Bindels RJM, Bochud M, Devuyst O (2018). Genome-wide meta-analysis unravels interactions between magnesium homeostasis and metabolic phenotypes. J Am Soc Nephrol [Epub ahead of print].


Festa BP, Chen Z, Berquez M, Debaix H, Tokonami N, Prange JA, de Hoek, G, Cremonesi A, Raimondi A, Nevo N, Giles RH, Devuyst O, Luciani A (2018). Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney. Nat Comm 9(1): 161.


Crowther LM, Poms M, Plecko B (2018). Multiomics tools for the diagnosis and treatment of rare neurological disease. J Inherit Metab Dis 41(3): 425-434.


Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D (2018). Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Kidney Int 93(4): 961-967.


Asadollahi R, Strauss JE, Beuing O, Edvarson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri A, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. Eur J Hum Gen, 26: 197-209.


Srinivasaraghavan R, Parameswaran N, Mathis D, Bürer C, Plecko B (2018). Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings. Neuropediatrics 49: 154-157.


Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres M-L, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H (2018). Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX Syndrome. Genet Med 20: 190-201.

2017


Hajarnis S, Yheskel M, Williams D, Brefort T, Glaudemans B, Debaix H, Baum M, Devuyst O, Patel V (2017). Suppression of microRNA activity in kidney collecting ducts induces partial loss of epithelial phenotype and renal fibrosis. J Am Soc Nephrol. Oct 11 [Epub ahead of print].


Plecko BZweier M, Begemann A, Mathis D, Schmitt B, Striano P, Baethmann M, Vari SM, Beccaria F, Zara F, Crowther LM, Joset P, Sticht H, Papuc SM, Rauch A (2017). Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy. J Med Genet, 54(12): 809-814.


Zeltner NA, Baumgartner MR, Bondarenko A, Ensenuauer, Karall D, Kölker S, Mühlhausen C, Scholl-Bürgi S, Thimm E, Quitmann J, Burgard P, Landolt MA, Huemer M (2017). Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism. JIMD Rep. 2017, 37: 27-35.


Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG (2017). Monoallelic BMP2 variants predicted to result in haploinsufficiency cause craniofacial, skeletal, and cardiac features overlapping those of 20p 12 deletions. Am J Hum Genet, 101(6): 985-994.


Auranen M, Toppila J, Suriyanarayanan S, Lone MA, Paetau A, Tyynismaa H, Hornemann T, Ylikallio E (2017). Clinical and metabolic consequences of L-serine Supplementation in hereditary sensory and autonomic neuropathy type 1C. Cold Spring Harb Mol Case Stud, 3(6): a002212.


Dohrn MF, Glöcke N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S (2017). Frequent genes in rare disorders: panel-based next Generation sequencing to disclose casual mutations in hereditary neuropathies. J Neurochem, 143: 507-522.


Edwards N, Olinger E, Adam J, Kelly M, Schiano G, Ramsbottom SA, Sandford R, Devuyst O, Sayer JA (2017). A novel homozygous UMOD Mutation reveals gene dosage effects on uromodulin processing und urinary excretion. Nephrol Dial Transplant, 32: 1994-1999.


Devuyst O, Olinger E, Rampoldi L (2017). Uromodulin: from physiology to rare and complex kidney disorders. Nat Rev Nephrol, 13(9): 535.544.


Hochuli M, Bollhalder S, Thierer C, Refardt J, Gerber P, Baumgartner MR (2017). Effects of inadequate amino acid mixture intake on nutrient supply of adult patients with phenylketonuria. Ann Nutr Metab, 71: 129-135.


Piret SE, Olinger E, Reed AAC, Nesbit MA, Hough TA, Bentley L, Devuyst O, Cox RThakker RV (2017). A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress. Dis Model Mech, 10(6): 773-786.


Plessl T, Bürer C, Lutz S, Yue WW, Baumgartner MR, Froese DS (2017). Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. Hum Mut, 38(8): 988-1001.


Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR (2017). Clinical or ATPase Domain mutations in ABCD4 disrupt the interactions between the Vitamin B12-trafficking Proteins ABCD4 and LMBD1. J Biol Chem, 292(28): 11980-11991.


De Matteis MA, Staiano L, Emma F, Devuyst O (2017). The 5-phosphatase OCRL in Lowe Syndrome and Dent disease 2. Nat Rev Nephrol, 13(8): 455-470.


Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A (2017). Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Eur J Med Genet, 60(9): 451-464.


Alecu I, Tedeschi A, Behler N, Wunderling K, Lamberz C, Lauterbach MAR, Gaebler A, Ernst D, Van Veldhoven PP, Al-Almoudi A, Latz E, Othman A, Kuerschner L, Hornemann T, Bradke F, Thiele C, Penno A (2017). Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction. J Lip Res, 58(1):42-59.


Mwinyi J, Boström A, Feher I, Othman A, Waeber G, Marti-Soler H, Vollenweider P, Marques-Vidal P, Sciöth HB, von Eckardstein A, Hornemann T (2017). Plasma 1-deoxysphingolipids are early predictors of incident type 2 diabetes mellitus. PLoS One, 12(5):e0175776.


Hiu Man G-C, Schlegel A, Scherer T, Allegri G, Heidelberger R, Tsikrika P, Schmeer M, Schleef M, Harding CO, Häberle J, Thöny B (2017). Low-dose gene therapy for murine PKU using episomal naked DNA vectors expressing PAH from ist endogenous liver promoter. Mol Ther Nucleic Acids, 7:339-349.


Zweier M, Peippo MM, Pöyhönen M, Kääriäinen H, Begemann A, Joset P, Oneda B, Rauch A (2017). The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. Am J Med Genet A, 173(5): 1440-1443.


Abela L, Spiegel R, Crowther L, Klein A, Steindl K, Pauc SM, Joset P, Zehavi Y, Rauch A, Plecko B, Simmons TL (2017). Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. PLoS ONE, 12(5): e0176363.


Higgins R, Pink A, Hunger R, Yawalkar N, Navarini AA (2017). Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an FGFR2 Missense Mutation. Front Med (Lausanne), Feb 28;4:16. doi: 10.3389/fmed.2017.


Hube L, Dohrn MF, Karsai G, Hirshamn S, van Damme P, Schulz JB, Weis J, Hornemann T, Claeys KG (2017). Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP). Plos One 12(1):e0170583.


Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A,  Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Clayton Smith J, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch ASteindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S,  Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz GE, Pineda Buitrago T, Perez Silva O, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho C-H, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura K, Gusella JF, Marsh JA, Graham Jr JM, Lin AE, Katsanis N, Jones PL, Crowley Jr WF, Davis EE,  FitzPatrick DR, Talkowski ME (2017). SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphtalmia Syndrome. Nat Genet, 49(2): 238-248.


Alecu I, Othman A, Penno A, Saied EM, Arenz C, von Eckardstein A, Hornemann T (2017). Cytotoxic 1-deoxysphingolipids are metabolized by a cytochrome P450-dependent pathway. J Lip Res, 58: 60-71.


Burda P, Suormala T, Heuberger D, Schäfer A, Fowler B, Froese DS, Baumgartner MR (2017). Functional characterization of missense mutations in sever methylenetetrahydrofolate reductase deficiency using a human expression system. J Inherit Metab Dis, 40(2): 297-306.


Bassila C, Ghemrawi R, Flayac J, Froese DS, Baumgartner MR, Guéant J-L, Coelho D (2017). Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC. BBA - Mol Basis Dis, 18631(1): 103-112.


Corre T, Olinger E, Harris SE, Traglia M, Ulivi S, Lenarduzzi S, Belge H, Youhanna S, Tokonami N, Bonny O, Houillier P, Polasek O, Deary IJ, Starr JM, Toniolo D, Gasparini P, Vollenweider P, Hayward C, Bochud M, Devuyst O (2017). Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine. Pflugers Arch - Eur J Physiol, 469(1): 91-103.


Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist J-F, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G,Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C (2017).  
Guidelines for diagnosis and Management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis, 40(1): 21-48.


Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA (2017). Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis, 40(1): 49-74.


Allegri G, Deplazes S, Grisch-Chan HM, Mathis D, Fingerhut R, Häberle J, Thöny B (2017). A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes. Clin Chim Acta, 464: 236-243.


Zeltner A, Landolt MA, Baumgartner MR, Lageder S, Quitmann J, Sommer R, Karall D, Mühlhausen C, Schlune A, Scholl-Bürgi S, Huemer M (2017). Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents. JIMD Reports, 31:1-9.

2016


Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B, Andersson H, Vannieuwenborg L, Geuens S, Baumgartner M, Kozicz T, Settles L, Morava E (2016). Autism in patients with propionic acidemia. Mol Genet Metab, 119(4): 317-321.


Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium (2016). Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. J Inherit Metab Dis, 39(5): 661-672.


Zhakupova A, Debeuf N, Krols M, Toussaint W, Vanhoutte L, Alecu I, Kutalik Z, Vollenweider P, Ernst D, von Eckardstein A, Lambrecht BN, Janssens S, Hornemann T (2016). ORMDL3 expression levels have no influence on the activity of serine palmitoyltransferase. FASEB J, 30(12): 4289-4300.


Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Naegele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Koelker S, Burda P, Froese DS, Devuyst O, Baumgartner MR (2016). Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. J Biol Chem, 291(39): 20563-20573.


Janas S, Seghers F, Schakman O, Alsady M, Deen P, Vriens J, Tissir F, Nilius B, Loffing J, Gaily P, Devuyst O (2016). TRPV4 is associated with central rather than nephrogenic osmoregulation. Pflugers Arch, 468(9): 1595-1607.


Steiner R, Saied EM, Othman A, Arenz C, Maccarone AT, Poad BL, Blanksby SJ, von Eckardstein A, Hornemann T (2016). Elucidating the chemical structure of native 1-deoxysphingosine. J Lipid Res, 57(7):1194-1203.


Mathis D, Abela L, Albersen M, Bürer C, Crowther L, Beese K, Hartmann H, Bok LA, Struys E, Papuc SM, Rauch A, Hersberger M, Verhoeven-Duif NM, Plecko B (2016). The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. J Inherit Metab Dis, 39(5): 733-741.


De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli M, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA (2016). Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nat Cell Biol, 18(8): 839-850.


Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connoly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schulz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wever RA, Eydoux P, Lehman AM, Vallance H, Stocker-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD (2016). Exome Sequencing and the Management of Neurometabolic Disorders. N Engl J Med, 374: 2246-2255.


Forny P, Schnellmann AS, Buerer C, Lutz S, Fowler B, Froese DS, Baumgartner MR (2016). Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Hum Mutat, 37(8): 745-754.


Güntert T, Hänggi P, Othman A, Suriyanarayanan S, Sonda S, Zuellig RA, Hornemann T, Ogunshola OO (2016). 1-Deoxysphingolipid-induced neurotoxicity involves N-methyl-D-aspartate receptor signaling. Neuropharmacology, 110(A): 211-222.


Huemer M, Carvalho DR, Brum JM, Ünal Ö, Coskun T, Weisfeld-Adams JD, Schrager NL, Scholl-Bürgi S, Schlune A, Donner MG, Hersberger M, Gemperle C, Riesner B, Ulmer H, Häberle J, Karall D (2016). Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. J Inherit Metab Dis, 39(3): 331-340.


Terryn S, Tanaka K, Lengelé JP, Olinger E, Dubois-Laforgue D, Garbay S, Kozyraki R, Van Der Smissen P, Christensen EI, Courtoy PJ, Bellanné-Chantelot C, Timsit J, Pontoglio M, Devuyst O (2016). Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule. Kidney Int, 89(5): 1075-1089.


Froese DS, Huemer M, Suormala T, Burda P, Coelho D, Guéant JL, Landolt MA, Kožich V, Fowler B, Baumgartner MR (2016). Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency. Hum Mutat, 37(5): 427-438.


Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium (2016). Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis, 39(3): 341-53.


Laemmle A, Gallagher RC, Keogh A, Stricker T, Gautschi M, Nuoffer JM, Baumgartner MR, Häberle J (2016). Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS ONE, 11(4): e0153358.


Jamiolkowski D, Kölker S, Glahn EM, Barić I, Zeman J, Baumgartner MR, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P, on behalf of the E-IMD consortium (2016). Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. J Inherit Metab Dis, 39(2): 231-241.


Bode H, Bourquin F, Suriyanarayanan S, Wei Y, Alecu I, Othman A, Von Eckardstein A, Hornemann T (2016). HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. Hum Mol Genet, 25(5): 853-865.


Abela L, Simmons L, Steindl K, Schmitt B, Mastrangelo M, Joset P, Papuc M, Sticht H, Baumer A, Crowther LM, Mathis D, Rauch A, Plecko B (2016). N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. J Inherit Metab Dis, 39(1): 131-137.


Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall C, Rauch A (2016). A Recurrent Germline Mutation in the PIGA GeneCauses Simpson–Golabi–Behmel Syndrome Type 2. Am J Med Genet Part A, 170(2): 392–402.


Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán GM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow J-C, Walker V, Zeman J, Baumgartner MR, Fowler B (2016). Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis. 39(1): 115-124.

2015


Suriyanarayanan S,  Auranen M, Toppila J,  Paetau A, Shcherbii M,  Palin E, Wei Y,  Lohioja T, Schlotter-Weigel B, Schön U,  Abicht A, Rautenstrauss B, Tyynismaa H, Walter M, Hornemann T, Ylikallio E (2015). The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. Neuromol Med, 18(1): 81-90.


Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, Gonzàlez W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Justine Bacchetta, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray F, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, Fran¢ois H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat M, Lemoine S, Leroy V, Loirat C, Macher M, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc A, Soulami K, Tiple A, Ulinski T, Vanhille Ph, Van N Regemorter, Jeunemaître X, Vargas-Poussou R (2015). Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. Hum Mutat, 36(8): 743-752.


Othman A, Benghozi R, Alecu I, Wey Y, Niesor E, von Eckardstein A, Hornemann T (2015). Fenofibrate lowers atypical sphingolipids in plasma of dyslipidemic patients: A novel approach for treating diabetic neuropathy? J Clin Lipidol, 9: 568–575.


Froese DS, Kopec J, Fitzpatrick F, Schuller M, McCorvie TJ, Chalk R, Plessl T, Fettelschoss V, Fowler B, Baumgartner MR, Yue WW (2015). Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B12 trafficking. J Biol Chem, 290(49): 29167-29177.


Kramer R, Bielawski J, Kistner-Griffin E, Othman A, Alecu I, Ernst D, Kornhauser D, Hornemann T, Spassieva S (2015). Neurotoxic 1-deoxysphingolipids and paclitaxel-induced peripheral neuropathy. FASEB J, 29(11): 4461-4472.


Hochuli M, Christ E, Meienberg F, Lehmann R, Krützfeldt J, Baumgartner MR (2015). Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. J Inherit Metab Dis, 38(6): 1093-1098.


Kölker S, Valayannopoulos V, Burlina Ab, Sykut-Cegielska J, Wijburg FA, Leão Teles E, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux J-B, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SPN, Bøgehus Rasmussen M, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès i Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, Julieta González M, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, Ogier de Baulny H, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Petković Ramadža D, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Vives Pinera I, Walter JH, Williams M, Lund AM, Garcia Cazorla A (2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis, 38(6): 1059-1074.


Kölker S, Garcia Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Leão Teles E, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux J-B, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, Cortès i Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Ogier de Baulny H, Ortez C, Peña-Quintana L, Petković Ramadža D, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Vives Pinera I, Walter JH, Williams M, Burgard P (2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis, 38(6): 1041-1057.


Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ (2015). Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. J Inherit Metab Dis, 38(6): 1007-1019.


Stoller F, Schlegel A, Viecelli HM, Rüfenacht V, Cesarovic N, Viecelli C, Deplazes S, Bettschart R, Hurter K, Schmierer P, Sidler X, Kron P, Dutkowski P, Graf R, Thöny B, Häberle J (2015). Hepatocyte Transfection in Small Pigs After Weaning by Hydrodynamic Intraportal Injection of Naked DNA/Minicircle Vectors. Hum Gen Ther Methods, 26(5): 181-192.


Devuyst O, Luciani A (2015). Chloride transporters and receptor-mediated endocytosis in the renal proximal tubule. J Physiol, 593(18): 4151-4164.


Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR (2015). Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. J Inherit Metab Dis, 38(5): 863-872.


Huemer M, Bürer C, Jesina P, Kozich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR (2015). Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. J Inherit Metab Dis, 38(5): 957-967.


Othman A, Bianchi R, Alecu I, Wei Y, Porretta-Serapiglia C, Lombardi R, Chiorazzi A, Meregalli C, Oggioni N, Cavaletti G, Lauria G, von Eckardstein A, Hornemann T (2015). Lowering Plasma 1-Deoxysphingolipids Improves Neuropathy in Diabetic Rats. Diabetes, 64(3): 1035-1045.


Kölker S, Dobbelaere D, Häberle J, Burgard P, Gleich F, Summar ML, Hannigan S, Parker S, Chakrapani A, Baumgartner MR (2015). Networking across borders for individuals with organic acidurias and urea cycle disorders: the EIMD consortium. J Inherit Metab Dis Reports, 22: 29-38.


Burda P, Hochuli M. Hepatic glycogen storage disorders: what have we learned in recent years? Curr Opi Clin Nutr Metab Care, 18(4): 415-421.


Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR (2015). Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Hum Mutat, 36(6): 611-621.


Dohrn MF, Othman A, Hirshman S, Bode H, Alecu I, Fähndrich E, Karges W, Weis J, Schulz JB, Hornemann T, Claeys K (2015). Elevation of plasma 1-deoxy-sphingolipids in type 2 diabetes mellitus: a susceptibility to neuropathy? Eur J Neurol, 22(5): 806-e55.


Othman A, Saely CH, Muendlein A, Vonbank A, Drexel H, von Eckardstein A, Hornemann T (2015).Plasma C20-Sphingolipids predict cardiovascular events independently from conventional cardiovascular risk factors in patients undergoing coronary angiography. Artherosclerosis, 240(1): 216-221.


Rivera-Barahona A, Sánchez-Alcudia R, Viecelli HM, Rüfenacht V, Pérez B, Ugarte M, Häberle J, Thöny B, LR Desviat (2015). Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man. PLoS One, 10(4): e0122966.


Othman A, Saely CH, Muendlein A, Vonbank A, Drexel H, von Eckardstein A, Hornemann T (2015). Plasma 1-deoxysphingolipids are predictive biomarkers for type 2 diabetes mellitus. BMJ Open Diabetes Res Care, 3(1): e000073.


Ernst D, Murphy SM, Sathiyanadan K, Wei Y, Othman A, de Laurá M, Liu Y-T, Penno A, Blake J, Donaghy M, Houlden H, Reilly MM, Hornemann T (2015). Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity. Neuromol Med, 17(1): 47-57.


Lou PH, Lucchinetti E, Zhang L, Affolter A, Gandhi M, Zhakupova A, Hersberger M, Hornemann T, Clanachan AS, Zaugg M (2015). Propofol (Diprivan) and Intralipid Exacerbate Insulin Resistance in Type-2 Diabetic Hearts by Impairing GLUT4 Trafficking. Anesth Analg, 120(2): 329-340.


Le Corre S, Viau A, Burtin M, El-Karoui K, Cnops Y, Terryn S, Debaix H, Bérissi S, Gubler M, Devuyst O, Terzi F (2015). Cystic Gene Dosage Influences Kidney Lesions After Nephron Reduction. Nephron, 129 (1): 42-51.


Hornemann T (2015). Palmitoylation and depalmitoylation defects. J Inherit Metab Dis, 38(1):179–186.


Astudillo L, Sabourdy F, Therville N, Bode H, Ségui B, Andrieu-Abadie N, Hornemann T, Levade T (2015). Human genetic disorders of sphingolipid biosynthesis. J Inherit Metab Dis, 38 (1): 65-76.

2014


Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR (2014). Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl-CoA Mutase (MUT) Deficiency.Hum Mutat, 35(12): 1449-1458.


Abela L, Plecko B, Palla A, Burda P, Nuoffer JM, Ballhausen D, Rohrbach M (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet J Rare Dis, 9(1): 176.


Huemer M, Scholl-Bürgi S, Hadaya K, Kern I, Beer R, Seppi K, Fowler B, Baumgartner MR, Karall D (2014). Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy. Orphanet J Rare Dis, 9(1): 161.


Zeltner NA, Huemer M, Baumgartner MR, Landolt MA (2014). Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review. Orphanet J Rare Dis, 9(1): 159.


Wei N, Pan J, Pop-Busui R, Othman A, Alecu I, Hornemann T, Eichler FS (2014). Altered sphingoid base profiles in type 1 compared to type 2 diabetes. Lipids Health Dis, 13: 161.


Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A (2014). The clinical significance of small copy number variants in neurodevelopmental disorders. J Med Genet, 51(10): 677-688.


Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A (2014). Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis, 9: 130.


Jusufi J, Suormala T, Burda P, Fowler B, Froese DS, Baumgartner MR (2014). Characterization of functional domains of the cblD (MMADHC) gene product. J Inherit Metab Dis, 5:841-849.


Mihout F, Devuyst O, Bensman A, Brocheriou I, Ridel C, Wagner CA, Mohebbi N, Boffa JJ, Plaisier E, Ronco P (2014). Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. Nephrol Dial Transplant, 29 Suppl 4:iv113-116.


Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, Papuc S, Rauch A, Plecko B (2014). Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene. Neuropediatrics, 45(4): 261-264.


Laemmle A, Balmer C, Doell C, Sass JO, Häberle J, Baumgartner MR (2014). Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur J Pediatr, 173(7): 971-974.


Sutter I, Park R, Othman A, Rohrer L, Hornemann T, Stoffel M, Devuyst O, von Eckardstein A (2014). Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate. J Lipid Res, 55(8): 1730-1737.


Devuyst O, Knoers NV, Remuzzi G, Schaefer F; Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association (2014). Rare inherited kidney diseases: challenges, opportunities, and perspectives. Lancet, 383(9931): 1844-1859.


Raggi C, Luciani A, Nevo N, Antignac C, Terryn S, Devuyst O (2014). Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis. Hum Mol Genet, 23(9): 2266-2278.


Plecko B, Paul K, Mills P, Clayton P, Paschke E, Maier O, Hasselmann O, Schmiedel G, Kanz S, Connolly M, Wolf N, Struys E, Stockler S, Abela L, Hofer D (2014). Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology, 82(16): 1425-1433.


Zuellig RA, Hornemann T, Othman A, Hehl AB, Bode H, Güntert T, Ogunshola OO, Saponara E, Grabliauskaite K, Jang JH, Ungethuem U, Wei Y, von Eckardstein A, Graf R, Sonda S (2014). Deoxysphingolipids, novel biomarkers for type 2 diabetes, are cytotoxic for insulin-producing cells. Diabetes, 63(4): 1326-1339.

2013


Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR (2013). Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up. Mol Gen Metab, 110(4): 472-476.


Murphy SM, Ernst D, Wei Y, Laurà M, Liu YT, Polke J, Blake J, Winer J, Houlden H, Hornemann T, Reilly MM (2013). Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.Neurology, 80(23): 2106-2111.