Literature DB >> 4906700

Genetical theory and the "inborn errors of metabolism".

H Harris.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1970        PMID: 4906700      PMCID: PMC1698993          DOI: 10.1136/bmj.1.5692.321

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


× No keyword cloud information.
  19 in total

1.  The nature of the defect in tyrosine metabolism in alcaptonuria.

Authors:  B N LA DU; V G ZANNONI; L LASTER; J E SEEGMILLER
Journal:  J Biol Chem       Date:  1958-01       Impact factor: 5.157

2.  A specific enzyme defect in gout associated with overproduction of uric acid.

Authors:  W N Kelley; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1967-06       Impact factor: 11.205

3.  Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.

Authors:  L E Rosenberg; A C Lilljeqvist; Y E Hsia
Journal:  N Engl J Med       Date:  1968-06-13       Impact factor: 91.245

4.  In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency.

Authors:  S Piomelli; L M Corash; D D Davenport; J Miraglia; E L Amorosi
Journal:  J Clin Invest       Date:  1968-04       Impact factor: 14.808

5.  The founder effect and deleterious genes.

Authors:  F B Livingstone
Journal:  Am J Phys Anthropol       Date:  1969-01       Impact factor: 2.868

6.  Hereditary tyrosinemia in a French Canadian isolate.

Authors:  C Laberge
Journal:  Am J Hum Genet       Date:  1969-01       Impact factor: 11.025

7.  Genetics of phenylketonuria. Heterozygosity for phenylketonuria.

Authors:  L I Woolf; W I Cranston; B L Goodwin
Journal:  Nature       Date:  1967-03-04       Impact factor: 49.962

8.  [Abnormal Michaelis constant for phosphoenol-pyruvate associated with an erythrocyte pyruvate kinase deficiency].

Authors:  P Boivin; C Galand
Journal:  Rev Fr Etud Clin Biol       Date:  1967-04

9.  Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.

Authors:  V G Oberholzer; B Levin; E A Burgess; W F Young
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791

10.  Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man.

Authors:  A Yoshida; G Stamatoyannopoulos; A G Motulsky
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728

View more
  3 in total

1.  Inheritance of type 2 Crigler-Najjar hyperbilirubinaemia.

Authors:  J O Hunter; R P Thompson; P M Dunn; R Williams
Journal:  Gut       Date:  1973-01       Impact factor: 23.059

Review 2.  Genetics and clinical enzymology.

Authors:  H Harris
Journal:  J Clin Pathol Suppl (Assoc Clin Pathol)       Date:  1970

3.  Pancreatic alkaline phosphatase and a tumour variant.

Authors:  T W Warnes; W R Timperley; P Hine; G Kay
Journal:  Gut       Date:  1972-07       Impact factor: 23.059

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.