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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 24770567)

  • 41. Changes in branched-chain amino acids in an infant with maple syrup urine disease during perioperative pediatric liver transplant: A case report.
    Saeyup P; Tubjaroen C; Kamolvisit W; Chongsrisawat V; Thaveepunsan W
    Paediatr Anaesth; 2024 Apr; 34(4):366-370. PubMed ID: 38314877
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
    Flaschker N; Feyen O; Fend S; Simon E; Schadewaldt P; Wendel U
    J Inherit Metab Dis; 2007 Nov; 30(6):903-9. PubMed ID: 17922217
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model.
    Greig JA; Jennis M; Dandekar A; Chorazeczewski JK; Smith MK; Ashley SN; Yan H; Wilson JM
    Mol Genet Metab; 2021; 134(1-2):139-146. PubMed ID: 34454844
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
    Sun WH; Wu BB; Wang YQ; Wu MY; Dong XR; Zhang YP; Lu W; Zhang P; Yang B; Zhang M; Wu HJ; Zhou WH
    World J Pediatr; 2020 Aug; 16(4):401-410. PubMed ID: 32193832
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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
    J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1147-1156. PubMed ID: 34187135
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Three novel mutations of the
    Yang J; Xiu J; Sun Y; Liu F; Shang X; Li G
    J Pediatr Endocrinol Metab; 2022 Mar; 35(3):303-312. PubMed ID: 34883003
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.
    Narayanan MP; Menon KN; Vasudevan DM
    Indian J Biochem Biophys; 2013 Oct; 50(5):442-6. PubMed ID: 24772966
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
    Khalifa OA; Imtiaz F; Ramzan K; Zaki O; Gamal R; Elbaik L; Rihan S; Salam E; Abdul-Mawgoud R; Hassan M; Hassan N; Saleh E; Seoudi D; Moustafa AS
    Am J Med Genet A; 2020 Nov; 182(11):2486-2500. PubMed ID: 32812330
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.
    Abiri M; Saei H; Eghbali M; Karamzadeh R; Shirzadeh T; Sharifi Z; Zeinali S
    Metab Brain Dis; 2019 Aug; 34(4):1145-1156. PubMed ID: 31119508
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.
    Dennis JA; Healy PJ
    Res Vet Sci; 1999 Aug; 67(1):1-6. PubMed ID: 10425233
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Liver transplantation in maple syrup urine disease.
    Wendel U; Saudubray JM; Bodner A; Schadewaldt P
    Eur J Pediatr; 1999 Dec; 158 Suppl 2():S60-4. PubMed ID: 10603101
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Analysis of gene mutations in Chinese patients with maple syrup urine disease.
    Yang N; Han L; Gu X; Ye J; Qiu W; Zhang H; Gong Z; Zhang Y
    Mol Genet Metab; 2012 Aug; 106(4):412-8. PubMed ID: 22727569
    [TBL] [Abstract][Full Text] [Related]  

  • 54. In silico analysis of novel mutations in maple syrup urine disease patients from Iran.
    Abiri M; Karamzadeh R; Mojbafan M; Alaei MR; Jodaki A; Safi M; Kianfar S; Bandehi Sarhaddi A; Noori-Daloii MR; Karimipoor M; Zeinali S
    Metab Brain Dis; 2017 Feb; 32(1):105-113. PubMed ID: 27507644
    [TBL] [Abstract][Full Text] [Related]  

  • 55. [Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].
    Shen Y; Gong X; Yan J; Qin L; Qiu G
    Zhonghua Er Ke Za Zhi; 2015 Jan; 53(1):66-70. PubMed ID: 25748408
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease.
    Tammachote R; Tongkobpetch S; Desudchit T; Suphapeetiporn K; Shotelersuk V
    J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S33-6. PubMed ID: 19240989
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
    Su L; Lu Z; Li F; Shao Y; Sheng H; Cai Y; Liu L
    Metab Brain Dis; 2017 Jun; 32(3):765-772. PubMed ID: 28197878
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
    Al Shidhani A; Al Hinai A; Al Thihli K; Al Mandhari H; Al Yaarubi S; Ullah I; Al-Hashmi N; Al Murshedi F
    J Clin Res Pediatr Endocrinol; 2023 Aug; 15(3):302-306. PubMed ID: 34738771
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
    Alijanpour M; Jazayeri O; Soleimani Amiri S; Brosens E
    Lab Med; 2022 Nov; 53(6):596-601. PubMed ID: 35657820
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Diagnosis of an intermediate case of maple syrup urine disease: A case report.
    Lin YT; Cai YN; Ting TH; Liu L; Zeng CH; Su L; Peng MZ; Li XZ
    World J Clin Cases; 2023 Feb; 11(5):1077-1085. PubMed ID: 36874425
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.