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.
3. Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. Wolf B; Freehauf CL; Thomas JA; Gordon PL; Greene CL; Ward JC J Inherit Metab Dis; 2003; 26(8):805-9. PubMed ID: 14739685 [TBL] [Abstract][Full Text] [Related]
4. Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases? El-Gharbawy A; Tolun AA; Halaby CA; Austin SL; Kishnani PS; Bali DS Mol Genet Metab Rep; 2022 Jun; 31():100856. PubMed ID: 35782603 [TBL] [Abstract][Full Text] [Related]
5. Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases. Liang Y; Du C; Wei H; Zhang C; Zhang M; Hu M; Fang F; Luo X Mol Genet Genomic Med; 2020 Oct; 8(10):e1444. PubMed ID: 32772503 [TBL] [Abstract][Full Text] [Related]
6. Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature. Beyzaei Z; Geramizadeh B; Karimzadeh S Orphanet J Rare Dis; 2020 Oct; 15(1):286. PubMed ID: 33054851 [TBL] [Abstract][Full Text] [Related]
7. Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism? Forny P; Burda P; Bode P; Rohrbach M JIMD Rep; 2021 Jan; 57(1):58-66. PubMed ID: 33473341 [TBL] [Abstract][Full Text] [Related]
8. Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. Liu Z; Zhao X; Sheng H; Cai Y; Yin X; Chen X; Su L; Lu Z; Zeng C; Li X; Liu L Am J Med Genet A; 2018 Mar; 176(3):589-596. PubMed ID: 29359854 [TBL] [Abstract][Full Text] [Related]
9. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Kishnani PS; Goldstein J; Austin SL; Arn P; Bachrach B; Bali DS; Chung WK; El-Gharbawy A; Brown LM; Kahler S; Pendyal S; Ross KM; Tsilianidis L; Weinstein DA; Watson MS; Genet Med; 2019 Apr; 21(4):772-789. PubMed ID: 30659246 [TBL] [Abstract][Full Text] [Related]
10. Novel variants in Turkish patients with glycogen storage disease. Çakar NE; Gezdirici A; Topuz HŞ; Önal H Pediatr Int; 2020 Oct; 62(10):1145-1150. PubMed ID: 32374048 [TBL] [Abstract][Full Text] [Related]
11. Hepatic ultrasound findings in the glycogen storage diseases. Lee P; Mather S; Owens C; Leonard J; Dicks-Mireaux C Br J Radiol; 1994 Nov; 67(803):1062-6. PubMed ID: 7820397 [TBL] [Abstract][Full Text] [Related]
12. Liver transplantation in glycogen storage disease: a single-center experience. Beyzaei Z; Shamsaeefar A; Kazemi K; Nikeghbalian S; Bahador A; Dehghani M; Malekhosseini SA; Geramizadeh B Orphanet J Rare Dis; 2022 Mar; 17(1):127. PubMed ID: 35313948 [TBL] [Abstract][Full Text] [Related]
13. Biomarkers in Glycogen Storage Diseases: An Update. Molares-Vila A; Corbalán-Rivas A; Carnero-Gregorio M; González-Cespón JL; Rodríguez-Cerdeira C Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33922238 [TBL] [Abstract][Full Text] [Related]
14. Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. Asgari A; Rouhi Dehnabeh S; Zargari M; Khani S; Mozafari H; Varasteh A; Keyfi F; Barzegari M; Hasanzaeh R; Khatami S Arch Iran Med; 2016 Nov; 19(11):774-778. PubMed ID: 27845546 [TBL] [Abstract][Full Text] [Related]
16. Recovery of enzyme activity in biotinidase deficient individuals during early childhood. Forny P; Wicht A; Rüfenacht V; Cremonesi A; Häberle J J Inherit Metab Dis; 2022 May; 45(3):605-620. PubMed ID: 35195902 [TBL] [Abstract][Full Text] [Related]
17. Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. Li H; Spencer L; Nahhas F; Miller J; Fribley A; Feldman G; Conway R; Wolf B Mol Genet Metab; 2014 Jul; 112(3):242-6. PubMed ID: 24797656 [TBL] [Abstract][Full Text] [Related]
19. Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. Tonin R; Caciotti A; Funghini S; la Marca G; Pasquini E; Cayton E; Mooney SD; Guerrini R; Morrone A Clin Chim Acta; 2015 May; 445():70-2. PubMed ID: 25795614 [TBL] [Abstract][Full Text] [Related]
20. Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel. Kim TH; Kim KY; Kim MJ; Seong MW; Park SS; Moon JS; Ko JS Eur J Med Genet; 2020 Jun; 63(6):103921. PubMed ID: 32244026 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]