Literature DB >> 14077060

IDIOPATHIC HYPERVALINEMIA: PROBABLY A NEW ENTITY OF INBORN ERROR OF VALINE METABOLISM.

Y WADA, K TADA, A MINAGAWA, T YOSHIDA, T MORIKAWA, T OKAMURA.   

Abstract

Entities:  

Keywords:  AMINO ACIDS; AMINOACIDURIA, RENAL; BLOOD CHEMICAL ANALYSIS; BLOOD PROTEIN ELECTROPHORESIS; CHROMATOGRAPHY; CHROMOSOMES; ELECTROENCEPHALOGRAPHY; GENETICS, HUMAN; HEMOGLOBIN; INFANT; PROTEIN METABOLISM DISORDERS; URINE; VALINE

Mesh：

Substances：

Year:  1963        PMID： 14077060

Source DB:  PubMed          Journal:  Tohoku J Exp Med        ISSN： 0040-8727            Impact factor:   1.848


× No keyword cloud information.
  7 in total

1.  Differential diagnosis of (inherited) amino acid metabolism or transport disorders.

Authors:  W Blom; J G Huijmans
Journal:  Amino Acids       Date:  1992-02       Impact factor: 3.520

Review 2.  Food intolerance in humans.

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

Review 3.  Lessons from inborn errors of metabolism.

Authors:  M D Milne
Journal:  Proc R Soc Med       Date:  1966-11

4.  A sibship with hypervalinemia.

Authors:  O S Reddi; S V Reddy; K R Reddy
Journal:  Hum Genet       Date:  1977-11-02       Impact factor: 4.132

5.  Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.

Authors:  X L Wang; C J Li; Y Xing; Y H Yang; J P Jia
Journal:  J Inherit Metab Dis       Date:  2015-02-05       Impact factor: 4.982

6.  ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.

Authors:  Jer-Yuarn Wu; Hsiao-Jung Kao; Sing-Chung Li; Robert Stevens; Steven Hillman; David Millington; Yuan-Tsong Chen
Journal:  J Clin Invest       Date:  2004-02       Impact factor: 14.808

Review 7.  The screening of hereditary metabolic defects among newborn infants.

Authors:  D Y Hsia
Journal:  Can Med Assoc J       Date:  1966-08-06       Impact factor: 8.262
  7 in total

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