Peroxisomal disordersBAUMGARTNER, Matthias R; SAUDUBRAY, Jean Marie.Seminars in neonatology. 2002, Vol 7, Num 1, pp 85-94, issn 1084-2756Article

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomeMILLS, Philippa B; CAMUZEAUX, Stephane S. M; STÖDBERG, Tommy et al.Brain. 2014, Vol 137, pp 1350-1360, issn 0006-8950, 11 p., 5Article

Pyruvate dehydrogenase phosphatase deficiency : Identification of the first mutation in two brothers and restoration of activity by protein complementationMAJ, Mary C; MACKAY, Neviana; LEVANDOVSKIY, Valeriy et al.The Journal of clinical endocrinology and metabolism. 2005, Vol 90, Num 7, pp 4101-4107, issn 0021-972X, 7 p.Article

Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samplesFINGERHUT, Ralph; SILVA AREVALO, Gabriel de Jesus; BAUMGARTNER, Matthias R et al.Journal of inherited metabolic disease. 2010, Vol 33, issn 0141-8955, S235-S239, SUP2Conference Paper

Δ¹-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and prolineBAUMGARTNER, Matthias R; RABIER, Daniel; NASSOGNE, Marie-Cécile et al.European journal of pediatrics. 2005, Vol 164, Num 1, pp 31-36, issn 0340-6199, 6 p.Article

Mutations in ABCD4 cause a new inborn error of vitamin B₁₂ metabolismCOELHO, David; KIM, Jaeseungc; NÜRNBERG, Peter et al.Nature genetics. 2012, Vol 44, Num 10, pp 1152-1155, issn 1061-4036, 4 p.Article

CRIM-negative infantile Pompe disease: 42-month treatment outcomeROHRBACH, Marianne; KLEIN, Andrea; KÖHLI-WIESNER, Alice et al.Journal of inherited metabolic disease. 2010, Vol 33, Num 6, pp 751-757, issn 0141-8955, 7 p.Article

Cardiomyopathy in newborns and infants : a broad spectrum of aetiologies and poor prognosisBADERTSCHER, Andrea; BAUERSFELD, Urs; ARBENZ, Urs et al.Acta paediatrica (Oslo). 2008, Vol 97, Num 11, pp 1523-1528, issn 0803-5253, 6 p.Article

Characterization of functional domains of the cblD (MMADHC) gene productJUSUFI, Jehona; SUORMALA, Terttu; BURDA, Patricie et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 5, pp 841-849, issn 0141-8955, 9 p.Article

Cross-sectional observational study of 208 patients with non-classical urea cycle disordersRÜEGGER, Corinne M; LINDNER, Martin; HOCHULI, Michel et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 1, pp 21-30, issn 0141-8955, 10 p.Article

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: Evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyBAUMGARTNER, Matthias R; DANTAS, M. Fernanda; VALLE, David et al.American journal of human genetics. 2004, Vol 75, Num 5, pp 790-800, issn 0002-9297, 11 p.Article

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers SyndromeMAYR, Johannes A; HAACK, Tobias B; MORONI, Isabella et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 314-320, issn 0002-9297, 7 p.Article

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolismSTUCKI, Martin; COELHO, David; SUORMALA, Terttu et al.Human molecular genetics (Print). 2012, Vol 21, Num 6, pp 1410-1418, issn 0964-6906, 9 p.Article

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineMARTINELLI, Diego; HÄBERLE, Johannes; BEVIVINO, Elsa et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 5, pp 761-776, issn 0141-8955, 16 p.Article

Gene Identification for the cblD Defect of Vitamin B₁₂ MetabolismCOELHO, David; SUORMALA, Terttu; STUCKI, Martin et al.The New England journal of medicine. 2008, Vol 358, Num 14, pp 1454-1464, issn 0028-4793, 11 p.Article

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut⁰, mut^- , cblA, cblB)HÖRSTER, Friederike; BAUMGARTNER, Matthias R; VIARDOT, Caroline et al.Pediatric research. 2007, Vol 62, Num 2, pp 225-230, issn 0031-3998, 6 p.Article

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ¹-pyrroline-5-carboxylate synthaseBAUMGARTNER, Matthias R; HU, Chien-An A; ALMASHANU, Shlomo et al.Human molecular genetics (Print). 2000, Vol 9, Num 19, pp 2853-2858, issn 0964-6906Article