Literature DB >> 4100151

Thiamine-responsive maple-syrup-urine disease.

C R Scriver, S Mackenzie, C L Clow, E Delvin.   

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Year:  1971        PMID： 4100151     DOI： 10.1016/s0140-6736(71)91041-5

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  29 in total

1.  Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.

Authors:  Kensaku Kohrogi; Eri Imagawa; Yuichiro Muto; Katsuki Hirai; Masahiro Migita; Hiroshi Mitsubuchi; Noriko Miyake; Naomichi Matsumoto; Kimitoshi Nakamura; Fumio Endo
Journal:  J Hum Genet       Date:  2015-04-16       Impact factor: 3.172

2.  Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.

Authors:  B Zhang; R S Wappner; I K Brandt; R A Harris; D W Crabb
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

3.  Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination.

Authors:  E Treacy; C L Clow; T R Reade; D Chitayat; O A Mamer; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 4.  Food intolerance in humans.

Authors:  R H Herman; L Hagler
Journal:  West J Med       Date:  1979-02

Review 5.  The genetics of metabolic disorders.

Authors:  D A Hopkinson
Journal:  Postgrad Med J       Date:  1972-04       Impact factor: 2.401

Review 6.  Inborn errors of metabolism: principles and their applications.

Authors:  L Pinksy
Journal:  Can Med Assoc J       Date:  1972-03-18       Impact factor: 8.262

7.  Maple syrup urine disease variant: report on an infant.

Authors:  P Koepp; C Rybak; H W Rüdiger; U Wendel
Journal:  Z Kinderheilkd       Date:  1974-02-11

8.  Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.

Authors:  D T Chuang; L S Ku; R P Cox
Journal:  Proc Natl Acad Sci U S A       Date:  1982-05       Impact factor: 11.205

9.  Maple syrup urine disease: treatment of the acutely ill newborn.

Authors:  G Hammersen; L Wille; H Schmidt; P Lutz; H Bickel
Journal:  Eur J Pediatr       Date:  1978-10-12       Impact factor: 3.183

10.  Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

Authors:  Y Indo; A Kitano; F Endo; I Akaboshi; I Matsuda
Journal:  J Clin Invest       Date:  1987-07       Impact factor: 14.808
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