Literature DB >> 14044031

INHERITED ENZYME DEFECTS: A REVIEW.

T HARGREAVES.   

Abstract

Keywords:  ENZYMES; METABOLIC DISEASES; REVIEW

Mesh:

Substances:

Year:  1963        PMID: 14044031      PMCID: PMC480570          DOI: 10.1136/jcp.16.4.293

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN: 0021-9746            Impact factor:   3.411


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  98 in total

1.  Glucuronic acid conjugation by patients with familial nonhemolytic jaundice and their relatives.

Authors:  B CHILDS; J B SIDBURY; C J MIGEON
Journal:  Pediatrics       Date:  1959-05       Impact factor: 7.124

2.  Type IV glycogenosis. Report of a case proven by characterization of glycogen and studied at necropsy.

Authors:  J B SIDBURY; J MASON; W B BURNS; B H RUEBNER
Journal:  Bull Johns Hopkins Hosp       Date:  1962-09

3.  Diarrhoea caused by deficiency of sugar splitting enzymes. I.

Authors:  H A WEIJERS; J H va de KAMER; W K DICKE; J IJSSELING
Journal:  Acta Paediatr       Date:  1961-01       Impact factor: 2.299

4.  Studies in maple syrup urine disease.

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

5.  Refractory megaloblastic anemia associated with excretion of orotic acid.

Authors:  C M HUGULEY; J A BAIN; S L RIVERS; R B SCOGGINS
Journal:  Blood       Date:  1959-06       Impact factor: 22.113

6.  Congenital adrenal hyperplasia with hypertension: unusual steroid pattern in blood and urine.

Authors:  W R EBERLEIN; A M BONGIOVANNI
Journal:  J Clin Endocrinol Metab       Date:  1955-12       Impact factor: 5.958

7.  Some investigations on the metabolism of phenylalanine and tyrosine in children with vitamin C deficiency.

Authors:  T H HUISMAN; J H JONXIS
Journal:  Arch Dis Child       Date:  1957-04       Impact factor: 3.791

8.  Congenital familial nonhemolytic jaundice with kernicterus.

Authors:  J F CRIGLER; V A NAJJAR
Journal:  Pediatrics       Date:  1952-08       Impact factor: 7.124

9.  A new error of tyrosine metabolism: tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine.

Authors:  G Medes
Journal:  Biochem J       Date:  1932       Impact factor: 3.857

10.  Toxicity of primaquine in Negroes.

Authors:  R S HOCKWALD; J ARNOLD; C B CLAYMAN; A S ALVING
Journal:  J Am Med Assoc       Date:  1952-08-23
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  1 in total

1.  FAVISM IN ENGLAND--TWO MORE CASES.

Authors:  J M HOLT; R A SLADDEN
Journal:  Arch Dis Child       Date:  1965-06       Impact factor: 3.791

  1 in total

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