Literature DB >> 8419609

Cerebral edema in maple syrup urine disease.

M L Levin, A Scheimann, R A Lewis, A L Beaudet.   

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Year:  1993        PMID： 8419609     DOI： 10.1016/s0022-3476(05)83521-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  7 in total

1.  Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine disease.

Authors:  P Jouvet; P Rustin; D L Taylor; J M Pocock; U Felderhoff-Mueser; N D Mazarakis; C Sarraf; U Joashi; M Kozma; K Greenwood; A D Edwards; H Mehmet
Journal:  Mol Biol Cell       Date:  2000-05       Impact factor: 4.138

2.  Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Authors:  L Edelmann; M P Wasserstein; R Kornreich; C Sansaricq; S E Snyderman; G A Diaz
Journal:  Am J Hum Genet       Date:  2001-08-16       Impact factor: 11.025

3.  Apoptotic signaling pathways induced by acute administration of branched-chain amino acids in an animal model of maple syrup urine disease.

Authors:  Thais C Vilela; Giselli Scaini; Camila B Furlanetto; Matheus A B Pasquali; João Paulo A Santos; Daniel P Gelain; José Cláudio F Moreira; Patrícia F Schuck; Gustavo C Ferreira; Emilio L Streck
Journal:  Metab Brain Dis       Date:  2016-08-11       Impact factor: 3.584

Review 4.  Maple syrup urine disease: mechanisms and management.

Authors:  Patrick R Blackburn; Jennifer M Gass; Filippo Pinto E Vairo; Kristen M Farnham; Herjot K Atwal; Sarah Macklin; Eric W Klee; Paldeep S Atwal
Journal:  Appl Clin Genet       Date:  2017-09-06

5.  Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics.

Authors:  Shahzad Rauf; Talal Almas; Irfan Ullah; Norina Usman; Muhammad Irfan
Journal:  Cureus       Date:  2020-08-12

6.  Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Authors:  Charles J Billington; Kimberly A Chapman; Eyby Leon; Beatrix W Meltzer; Seth I Berger; Matthew Olson; Robert A Figler; Steve A Hoang; Cui Wanxing; Brian R Wamhoff; M Sol Collado; Kristina Cusmano-Ozog
Journal:  Am J Med Genet A       Date:  2022-07-07       Impact factor: 2.578

7.  A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease.

Authors:  Gang Liu; Dingyuan Ma; Ping Hu; Wen Wang; Chunyu Luo; Yan Wang; Yun Sun; Jingjing Zhang; Tao Jiang; Zhengfeng Xu
Journal:  Front Genet       Date:  2018-04-24       Impact factor: 4.599
  7 in total

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