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Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A. Hassan A. Tremor Other Hyperkinet Mov (N Y). 2023 Mar 28;13:9. doi: 10.5334/tohm.747. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37008993 Free PMC article. Review.
EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SCN2A, PRRT2), GLUT-1, mitochondrial disorders (PDHA1, PDHX, ACO2), metabolic disorders (Maple syrup urine disease …
EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SC …
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F. Jiang HH, et al. J Pediatr Endocrinol Metab. 2021 Jun 30;34(9):1147-1156. doi: 10.1515/jpem-2020-0746. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34187135 Review.
OBJECTIVES: To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. ...We found a total of 52 cases of MSUD reports so far. A tota …
OBJECTIVES: To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare t …
Maple syrup urine disease: it has come a long way.
Chuang DT. Chuang DT. J Pediatr. 1998 Mar;132(3 Pt 2):S17-23. doi: 10.1016/s0022-3476(98)70523-2. J Pediatr. 1998. PMID: 9546032 Review.
Maple syrup urine disease (MSUD) was first described in 1954 by Menkes et al. as a progressive neurologic degenerative disorder. ...The results demonstrated the feasibility of stable correction of E1 alpha-deficient (type IA) MSUD and provided a …
Maple syrup urine disease (MSUD) was first described in 1954 by Menkes et al. as a progressive neurologic degene …
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H. Moorthie S, et al. J Inherit Metab Dis. 2014 Nov;37(6):889-98. doi: 10.1007/s10545-014-9729-0. Epub 2014 Jul 15. J Inherit Metab Dis. 2014. PMID: 25022222 Review.
As part of this study we conducted a systematic review and meta-analysis to estimate the birth prevalence of these conditions: maple syrup urine disease, homocystinuria (pyridoxine unresponsive), glutaric aciduria type I, isovaleric acidaemia an …
As part of this study we conducted a systematic review and meta-analysis to estimate the birth prevalence of these conditions: maple …
Diagnosis of inborn errors of metabolism.
Velázquez A, Vela-Amieva M, Cicerón-Arellano I, Ibarra-González I, Pérez-Andrade ME, Olivares-Sandoval Z, Jiménez-Sánchez G. Velázquez A, et al. Arch Med Res. 2000 Mar-Apr;31(2):145-50. doi: 10.1016/s0188-4409(00)00053-9. Arch Med Res. 2000. PMID: 10880718 Review.
Amino acid defects have been the most prevalent, the proportion of organic acid and carbohydrate disorders having increased in the last 10 years, associated with improved diagnostic facilities. The most frequently diagnosed diseases were PKU, type 1a glycogen storage, and …
Amino acid defects have been the most prevalent, the proportion of organic acid and carbohydrate disorders having increased in the last 10 y …