196 related articles for article (PubMed ID: 35205278)
1. A Gain-of-Function Mutation on
Maguolo A; Rodella G; Giorgetti A; Nicolodi M; Ribeiro R; Dianin A; Cantalupo G; Monge I; Carcereri S; De Bernardi ML; Delledonne M; Pasini A; Campostrini N; Ion Popa F; Piacentini G; Teofoli F; Vincenzi M; Camilot M; Bordugo A
Genes (Basel); 2022 Jan; 13(2):. PubMed ID: 35205278
[TBL] [Abstract][Full Text] [Related]
2. PPM1K defects cause mild maple syrup urine disease: The second case in the literature.
Ozcelik F; Arslan S; Ozguc Caliskan B; Kardas F; Ozkul Y; Dundar M
Am J Med Genet A; 2023 May; 191(5):1360-1365. PubMed ID: 36706222
[TBL] [Abstract][Full Text] [Related]
3. Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
Li X; Yang Y; Gao Q; Gao M; Lv Y; Dong R; Liu Y; Zhang K; Gai Z
Metab Brain Dis; 2018 Jun; 33(3):741-751. PubMed ID: 29307017
[TBL] [Abstract][Full Text] [Related]
4. In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Fernández-Lainez C; Aláez-Verson C; Ibarra-González I; Enríquez-Flores S; Carrillo-Sanchez K; Flores-Lagunes L; Guillén-López S; Belmont-Martínez L; Vela-Amieva M
Clin Chim Acta; 2018 Aug; 483():33-38. PubMed ID: 29673582
[TBL] [Abstract][Full Text] [Related]
5. Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA; Carson VJ; Soltys K; Young ME; Bowser LE; Puffenberger EG; Brigatti KW; Williams KB; Robinson DL; Hendrickson C; Beiler K; Taylor CM; Haas-Givler B; Chopko S; Hailey J; Muelly ER; Shellmer DA; Radcliff Z; Rodrigues A; Loeven K; Heaps AD; Mazariegos GV; Morton DH
Mol Genet Metab; 2020 Mar; 129(3):193-206. PubMed ID: 31980395
[TBL] [Abstract][Full Text] [Related]
6. Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.
Singh E; Chi YI; Kopesky J; Zimmerman M; Urrutia R; Basel D; Schwoerer JS
JIMD Rep; 2024 May; 65(3):144-155. PubMed ID: 38736638
[TBL] [Abstract][Full Text] [Related]
7. Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Park HD; Lee DH; Hong YH; Kang DH; Lee YK; Song J; Lee SY; Kim JW; Ki CS; Lee YW
Ann Clin Lab Sci; 2011; 41(2):167-73. PubMed ID: 21844576
[TBL] [Abstract][Full Text] [Related]
8. Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
Harris RA; Zhang B; Goodwin GW; Kuntz MJ; Shimomura Y; Rougraff P; Dexter P; Zhao Y; Gibson R; Crabb DW
Adv Enzyme Regul; 1990; 30():245-63. PubMed ID: 2403034
[TBL] [Abstract][Full Text] [Related]
9. Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease.
Mitsubuchi H; Owada M; Endo F
J Nutr; 2005 Jun; 135(6 Suppl):1565S-70S. PubMed ID: 15930470
[TBL] [Abstract][Full Text] [Related]
10. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).
Miryounesi M; Ghafouri-Fard S; Goodarzi H; Fardaei M
J Pediatr Endocrinol Metab; 2015 May; 28(5-6):673-5. PubMed ID: 25381949
[TBL] [Abstract][Full Text] [Related]
11. Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease.
Wang J; Liu H; Chen G; Tsuei SH; Yu T; Fu Q
J Pediatr Endocrinol Metab; 2011; 24(9-10):827-9. PubMed ID: 22145486
[TBL] [Abstract][Full Text] [Related]
12. A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
Oyarzabal A; Martínez-Pardo M; Merinero B; Navarrete R; Desviat LR; Ugarte M; Rodríguez-Pombo P
Hum Mutat; 2013 Feb; 34(2):355-62. PubMed ID: 23086801
[TBL] [Abstract][Full Text] [Related]
13. [Progress of research on Maple syrup disease].
Yang C; Chen T; Lei X; Liu Y; Xu M; Yang D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):737-741. PubMed ID: 31302925
[TBL] [Abstract][Full Text] [Related]
14. Production and characterization of murine models of classic and intermediate maple syrup urine disease.
Homanics GE; Skvorak K; Ferguson C; Watkins S; Paul HS
BMC Med Genet; 2006 Mar; 7():33. PubMed ID: 16579849
[TBL] [Abstract][Full Text] [Related]
15. Lessons from genetic disorders of branched-chain amino acid metabolism.
Chuang DT; Chuang JL; Wynn RM
J Nutr; 2006 Jan; 136(1 Suppl):243S-9S. PubMed ID: 16365091
[TBL] [Abstract][Full Text] [Related]
16. Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.
Zimmerman HA; Olson KC; Chen G; Lynch CJ
Mol Genet Metab; 2013 Aug; 109(4):345-53. PubMed ID: 23800641
[TBL] [Abstract][Full Text] [Related]
17. Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Fang X; Zhu X; Feng Y; Bai Y; Zhao X; Liu N; Kong X
Sci Rep; 2021 Sep; 11(1):18939. PubMed ID: 34556729
[TBL] [Abstract][Full Text] [Related]
18. Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
Stojiljkovic M; Klaassen K; Djordjevic M; Sarajlija A; Brasil S; Kecman B; Grkovic S; Kostic J; Rodriguez-Pombo P; Desviat LR; Pavlovic S; Perez B
Clin Genet; 2016 Sep; 90(3):252-7. PubMed ID: 26830710
[TBL] [Abstract][Full Text] [Related]
19. Successful treatment of severe MSUD in Bckdhb
Pontoizeau C; Gaborit C; Tual N; Simon-Sola M; Rotaru I; Benoist M; Colella P; Lamazière A; Brassier A; Arnoux JB; Rötig A; Ottolenghi C; de Lonlay P; Mingozzi F; Cavazzana M; Schiff M
J Inherit Metab Dis; 2024 Jan; 47(1):41-49. PubMed ID: 36880392
[TBL] [Abstract][Full Text] [Related]
20. Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.
Quental S; Martins E; Vilarinho L; Amorim A; João Prata M
J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S457-60. PubMed ID: 19085071
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
