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10. The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient. Hui J; Law E; Chung C; Fung S; Yuen P; Tang N World J Pediatr; 2012 Aug; 8(3):278-80. PubMed ID: 21874615 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. Yokoi K; Ito T; Maeda Y; Nakajima Y; Kurono Y; Sugiyama N; Togari H Brain Dev; 2009 Nov; 31(10):775-8. PubMed ID: 19201116 [TBL] [Abstract][Full Text] [Related]
14. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. Sherwood WG; Saunders M; Robinson BH; Brewster T; Gravel RA J Pediatr; 1982 Oct; 101(4):546-50. PubMed ID: 6811711 [TBL] [Abstract][Full Text] [Related]
20. Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. Fuchshuber A; Suormala T; Roth B; Duran M; Michalk D; Baumgartner ER Eur J Pediatr; 1993 May; 152(5):446-9. PubMed ID: 8319716 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]