These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
30. [Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency]. Wang T; Ye J; Han LS; Qiu WJ; Zhang HW; Zhang YF; Gao XL; Wang Y; Gu XF Zhongguo Dang Dai Er Ke Za Zhi; 2009 Aug; 11(8):609-12. PubMed ID: 19695181 [TBL] [Abstract][Full Text] [Related]
36. Two forms of biotin-responsive multiple carboxylase deficiency. Sweetman L J Inherit Metab Dis; 1981; 4(2):53-4. PubMed ID: 6790844 [TBL] [Abstract][Full Text] [Related]
37. Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review. Wu HR; Chen KJ; Hsiao HP; Chao MC J Pediatr Endocrinol Metab; 2020 Nov; 33(11):1481-1486. PubMed ID: 32841162 [TBL] [Abstract][Full Text] [Related]
38. Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures. Fatima S; Aamir M; Bibi A J Coll Physicians Surg Pak; 2021 Jan; 31(1):95-97. PubMed ID: 33546543 [TBL] [Abstract][Full Text] [Related]
39. Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. Aoki Y; Suzuki Y; Sakamoto O; Li X; Takahashi K; Ohtake A; Sakuta R; Ohura T; Miyabayashi S; Narisawa K Biochim Biophys Acta; 1995 Dec; 1272(3):168-74. PubMed ID: 8541348 [TBL] [Abstract][Full Text] [Related]
40. Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate. Suzuki Y; Aoki Y; Sakamoto O; Li X; Miyabayashi S; Kazuta Y; Kondo H; Narisawa K Clin Chim Acta; 1996 Jul; 251(1):41-52. PubMed ID: 8814349 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]