Literature DB >> 13608087

Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.

D Y MACKENZIE, L I WOOLF.   

Abstract

Entities:  

Keywords:  LEUCINE/metabolism; MENTAL DEFICIENCY; METABOLIC DISEASES/in infant and child

Mesh：

Substances：

Year:  1959        PMID： 13608087      PMCID： PMC1992202          DOI： 10.1136/bmj.1.5114.90

Source DB:  PubMed          Journal:  Br Med J        ISSN： 0007-1447


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  5 in total

1.  Paper chromatography of urinary indoles.

Authors:  J B JEPSON
Journal:  Lancet       Date:  1955-11-12       Impact factor: 79.321

2.  An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric acid and phenylpyruvic acid.

Authors:  A J SMITH; L B STRANG
Journal:  Arch Dis Child       Date:  1958-04       Impact factor: 3.791

3.  The dietary treatment of phenylketonuria.

Authors:  L I WOOLF; R GRIFFITHS; A MONCRIEFF; S COATES; F DILLISTONE
Journal:  Arch Dis Child       Date:  1958-02       Impact factor: 3.791

4.  Familial hypoglycemia precipitated by amino acids.

Authors:  W A COCHRANE; W W PAYNE; M J SIMPKISS; L I WOOLF
Journal:  J Clin Invest       Date:  1956-04       Impact factor: 14.808

5.  A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

Authors:  J H MENKES; P L HURST; J M CRAIG
Journal:  Pediatrics       Date:  1954-11       Impact factor: 7.124
  5 in total
  28 in total

1.  [MAPLE SYRUP DISEASE WITH FAMILIAL INCIDENCE].

Authors:  P B DIEZEL; K MARTIN
Journal:  Virchows Arch Pathol Anat Physiol Klin Med       Date:  1964-05-22

Review 2.  INHERITED ENZYME DEFECTS: A REVIEW.

Authors:  T HARGREAVES
Journal:  J Clin Pathol       Date:  1963-07       Impact factor: 3.411

3.  DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA).

Authors:  R G WESTALL
Journal:  Arch Dis Child       Date:  1963-10       Impact factor: 3.791

4.  Recent work on phenylketonuria and maple syrup urine disease (leucinosis).

Authors:  L I WOOLF
Journal:  Proc R Soc Med       Date:  1962-10

5.  Studies in maple syrup urine disease.

Authors:  C E DENT; R G WESTALL
Journal:  Arch Dis Child       Date:  1961-06       Impact factor: 3.791

6.  Maple syrup urine disease.

Authors:  A D PATRICK
Journal:  Arch Dis Child       Date:  1961-06       Impact factor: 3.791

7.  Tests for phenylketonuria: results of a one-year programme for its detection in infancy and among mental defectives.

Authors:  N K GIBBS; L I WOOLF
Journal:  Br Med J       Date:  1959-09-26

8.  Disturbances of amino acid metabolism.

Authors:  L E HOLT; S E SNYDERMAN
Journal:  Bull N Y Acad Med       Date:  1960-07

9.  Serum Markers of Neurodegeneration in Maple Syrup Urine Disease.

Authors:  Giselli Scaini; Tássia Tonon; Carolina F Moura de Souza; Patricia F Schuk; Gustavo C Ferreira; Joao Seda Neto; Tatiana Amorin; Ida Vanessa D Schwartz; Emilio L Streck
Journal:  Mol Neurobiol       Date:  2016-09-22       Impact factor: 5.590

10.  Branched Chain Amino Acids.

Authors:  Michael Neinast; Danielle Murashige; Zoltan Arany
Journal:  Annu Rev Physiol       Date:  2018-11-28       Impact factor: 19.318
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