Literature DB >> 14065982

HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.

N A CARSON, D C CUSWORTH, C E DENT, C M FIELD, D W NEILL, R G WESTALL.   

Abstract

Entities:  

Keywords:  AMINOACIDURIA, RENAL; CHILD; CHROMATOGRAPHY; GENETICS, HUMAN; HOMOCYSTEINE; MENTAL RETARDATION; NORTHERN IRELAND

Mesh：

Substances：

Year:  1963        PMID： 14065982      PMCID： PMC2019092          DOI： 10.1136/adc.38.201.425

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  27 in total

1.  The amino acids and other ampholytes of urine. 3. Unidentified substances excreted in normal human urine.

Authors:  R G WESTALL
Journal:  Biochem J       Date:  1955-06       Impact factor: 3.857

2.  Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I.

Authors:  B CHILDS; W L NYHAN; M BORDEN; L BARD; R E COOKE
Journal:  Pediatrics       Date:  1961-04       Impact factor: 7.124

3.  Studies in maple syrup urine disease.

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

4.  Maple syrup urine disease: branched-chain keto-aciduria.

Authors:  J DANCIS; M LEVITZ; R G WESTALL
Journal:  Pediatrics       Date:  1960-01       Impact factor: 7.124

5.  The reversible binding of half-cystine residues to serum protein, and its bearing on the cystine requirement of cultured mammalian cells.

Authors:  H EAGLE; V I OYAMA; K A PIEZ
Journal:  J Biol Chem       Date:  1960-06       Impact factor: 5.157

6.  Studies on the treatment of cystinuria.

Authors:  C E DENT; B SENIOR
Journal:  Br J Urol       Date:  1955-12

7.  Glutathione-homocystine transhydrogenase.

Authors:  E RACKER
Journal:  J Biol Chem       Date:  1955-12       Impact factor: 5.157

8.  Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

Authors:  C U LOWE; M TERREY; E A MacLACHLAN
Journal:  AMA Am J Dis Child       Date:  1952-02

9.  Isolation of amino acids by chromatography on ion exchange columns; use of volatile buffers.

Authors:  C H W HIRS; S MOORE; W H STEIN
Journal:  J Biol Chem       Date:  1952-04       Impact factor: 5.157

10.  Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness.

Authors:  I A Schafer; C R Scriver; M L Efron
Journal:  N Engl J Med       Date:  1962-07-12       Impact factor: 91.245
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  32 in total

1.  HOMOCYSTINURIA.

Authors:  G M KOMROWER; V K WILSON
Journal:  Proc R Soc Med       Date:  1963-11

2.  OCULAR INVOLVEMENT IN HOMOCYSTINURIA.

Authors:  E J ARNOTT; D P GREAVES
Journal:  Br J Ophthalmol       Date:  1964-12       Impact factor: 4.638

3.  Importance of homocysteine-induced abnormalities of proteoglycan structure in arteriosclerosis.

Authors:  K S McCully
Journal:  Am J Pathol       Date:  1970-04       Impact factor: 4.307

4.  Iherited abnormalities affecting the nervous system: genetic and psychiatric aspects.

Authors:  J Stern; V Cowie
Journal:  Biochem J       Date:  1969-02       Impact factor: 3.857

5.  Disorders of amino acid metabolism--1971.

Authors:  J H Menkes
Journal:  Calif Med       Date:  1971-10

6.  Homocystinuria.

Authors:  N A Carson
Journal:  Proc R Soc Med       Date:  1970-01

7.  Homocystine-induced arteriosclerosis. The role of endothelial cell injury and platelet response in its genesis.

Authors:  L A Harker; R Ross; S J Slichter; C R Scott
Journal:  J Clin Invest       Date:  1976-09       Impact factor: 14.808

8.  Arteriosclerosis due to homocyst (e) inemia. Failure to reproduce the model in weanling rabbits.

Authors:  S Donahue; J A Struman; G Gaull
Journal:  Am J Pathol       Date:  1974-11       Impact factor: 4.307

9.  Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.

Authors:  S H Mudd; W A Edwards; P M Loeb; M S Brown; L Laster
Journal:  J Clin Invest       Date:  1970-09       Impact factor: 14.808

Review 10.  The effect of dietary modulation of sulfur amino acids on cystathionine β synthase-deficient mice.

Authors:  Warren D Kruger; Sapna Gupta
Journal:  Ann N Y Acad Sci       Date:  2015-11-24       Impact factor: 5.691
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