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3. Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. Baumgartner ER; Suormala T Int J Vitam Nutr Res; 1997; 67(5):377-84. PubMed ID: 9350481 [TBL] [Abstract][Full Text] [Related]
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5. Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency. Seymons K; De Moor A; De Raeve H; Lambert J Pediatr Dermatol; 2004; 21(3):231-5. PubMed ID: 15165201 [TBL] [Abstract][Full Text] [Related]
6. Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency. Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association ; Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health ; Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Feb; 51(1):129-135. PubMed ID: 35576117 [TBL] [Abstract][Full Text] [Related]
7. Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Dupuis L; Leon-Del-Rio A; Leclerc D; Campeau E; Sweetman L; Saudubray JM; Herman G; Gibson KM; Gravel RA Hum Mol Genet; 1996 Jul; 5(7):1011-6. PubMed ID: 8817339 [TBL] [Abstract][Full Text] [Related]
8. Phenotypic variation in biotinidase deficiency. Wolf B; Grier RE; Allen RJ; Goodman SI; Kien CL; Parker WD; Howell DM; Hurst DL J Pediatr; 1983 Aug; 103(2):233-7. PubMed ID: 6875714 [TBL] [Abstract][Full Text] [Related]
9. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. Roth KS; Yang W; Foremann JW; Rothman R; Segal S J Pediatr; 1980 May; 96(5):845-9. PubMed ID: 7365583 [TBL] [Abstract][Full Text] [Related]
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19. The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. Friebel D; von der Hagen M; Baumgartner ER; Fowler B; Hahn G; Feyh P; Heubner G; Baumgartner MR; Hoffmann GF Neuropediatrics; 2006 Apr; 37(2):72-8. PubMed ID: 16773504 [TBL] [Abstract][Full Text] [Related]
20. Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Suormala T; Fowler B; Duran M; Burtscher A; Fuchshuber A; Tratzmüller R; Lenze MJ; Raab K; Baur B; Wick H; Baumgartner R Pediatr Res; 1997 May; 41(5):666-73. PubMed ID: 9128289 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]