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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]
9. Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. Wolf B Eur J Pediatr; 2002 Mar; 161(3):167-8; author reply 169. PubMed ID: 11998918 [No Abstract] [Full Text] [Related]
10. 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]
18. 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]