Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cellsBAUR, Barbara; SUORMALA, Terttu; BAUMGARTNER, E. Regula et al.Brain research. 2002, Vol 925, Num 2, pp 111-121, issn 0006-8993Article

LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism : HOMOCYSTEINE AND B-VITAMIN METABOLISMRUTSCH, Frank; GAILUS, Susann; SUORMALA, Terttu et al.Journal of inherited metabolic disease. 2011, Vol 34, Num 1, pp 121-126, issn 0141-8955, 6 p.Article

5, 10-Methylenetetrahydrofolate reductase (MTHFR) Assay in the forward direction: Residual activity in MTHFR deficiencySUORMALA, Terttu; GAMSE, Gertraud; FOWLER, Brian et al.Clinical chemistry (Baltimore, Md.). 2002, Vol 48, Num 6, pp 835-843, issn 0009-9147, 1Article

Prenatal and postnatal treatment in cobalamin C defectHUEMER, Martina; SIMMA, Burkhard; FOWLER, Brian et al.The Journal of pediatrics. 2005, Vol 147, Num 4, pp 469-472, issn 0022-3476, 4 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

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

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studiesMÖSLINGER, Dorothea; MÜHL, Adolf; SUORMALA, Terttu et al.European journal of pediatrics. Supplement. 2003, Vol 162, Num 1, pp S46-S49, issn 0943-9676Article

A novel mutation in LMBRD1 causes the cblF defect of vitamin B₁₂ metabolism in a Turkish patientGAILUS, Susann; SUORMALA, Terttu; MALERCZYK-AKTAS, Ayse Gül et al.Journal of inherited metabolic disease. 2010, Vol 33, Num 1, pp 17-24, issn 0141-8955, 8 p.Article

Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer diseaseLINNEBANK, Michael; LINNEBANK, Anja; JEUB, Monika et al.American journal of medical genetics. 2004, Vol 131A, Num 1, pp 101-102, issn 0148-7299, 2 p.Article

Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletionSUORMALA, Terttu; WIESMANN, Ulrich N; CRUZ, Fatima et al.International journal for vitamin and nutrition research. 2002, Vol 72, Num 4, pp 278-286, issn 0300-9831Article

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

Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiencyDODELSON DE KREMER, Raquel; LATINI, Alexandra; SUORMALA, Terttu et al.Metabolic brain disease. 2002, Vol 17, Num 1, pp 13-18, issn 0885-7490Article

3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic fatherVISSER, Gepke; SUORMALA, Terttu; SMIT, G. Peter A et al.European journal of pediatrics. 2000, Vol 159, Num 12, pp 901-904, issn 0340-6199Article

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

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in AustriaMÖSLINGER, Dorothea; STÖCKLER-IPSIROGLU, Sylvia; SCHEIBENREITER, Susanne et al.European journal of pediatrics. 2001, Vol 160, Num 5, pp 277-282, issn 0340-6199Article

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B₁₂ metabolismRUTSCH, Frank; GAILUS, Susann; STUCKI, Martin et al.Nature genetics. 2009, Vol 41, Num 2, pp 234-239, issn 1061-4036, 6 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