(Q38237414)

31 August 2017

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title

The salience of Garrod's 'molecular groupings' and 'Inborn Factors in Disease'. (English)

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31 August 2017

C R Scriver

1

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31 August 2017

publication date

1 January 1989

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Journal of Inherited Metabolic Disease

31 August 2017

published in

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31 August 2017

volume

12 Suppl 1

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31 August 2017

page(s)

9-24

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Frederick Gowland HOPKINS.

31 August 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799283

Quantification of the importance of individual steps in the control of aromatic amino acid metabolism

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799283

Biosynthesis of tetrahydrobiopterin. Purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from human liver

21 January 2018

1 reference

12 December 2020

Homozygous familial hypercholesterolemia among French Canadians in Québec Province

1 reference

12 December 2020

Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents

1 reference

12 December 2020

Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes

1 reference

12 December 2020

Sir Archibald Garrod's Conception of Chemical Individuality: A Modern Appreciation

1 reference

12 December 2020

Studies on the molecular defect in phenylketonuria and hyperphenylalaninaemia using antibodies against phenylalanine hydroxylase

1 reference

12 December 2020

The interaction of alpha thalassaemia with heterozygous beta thalassaemia

1 reference

12 December 2020

A receptor-mediated pathway for cholesterol homeostasis

1 reference

12 December 2020

Clinical consequences of heterozygosity for autosomal-recessive diseases

1 reference

12 December 2020

Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive

1 reference

12 December 2020

Archibald Garrod and the development of the concept of inborn errors of metabolism

1 reference

12 December 2020

Screening for medical intervention: the PKU experience

1 reference

12 December 2020

[The beta-thalassemia gene in French Canada: reappearance in Portneuf County].

1 reference

12 December 2020

Improved detection of beta-thalassaemia carriers by a two-test method

1 reference

12 December 2020

Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease

1 reference

12 December 2020

Phenylalanine hydroxylase activity in heterozygote hereditary carriers of the phenylketonuria gene

1 reference

12 December 2020

The molecular basis of dominance.

1 reference

12 December 2020

The Hartnup phenotype: Mendelian transport disorder, multifactorial disease

1 reference

12 December 2020

Molecular genetics in medicine. Introduction

1 reference

12 December 2020

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs

1 reference

12 December 2020

Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells

1 reference

12 December 2020

Genes and chemical reactions in Neurospora

1 reference

12 December 2020

Malignant Hyperphenylalaninemia—Clinical Features, Biochemical Findings, and Experience with Administration of Biopterins

1 reference

12 December 2020

Glutaric aciduria: Inherited deficiency of glutaryl-CoA dehydrogenase activity

1 reference

12 December 2020

Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction.

1 reference

12 December 2020

Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts

1 reference

12 December 2020

Two mutations of dihydropteridine reductase deficiency

1 reference

12 December 2020

Two variant hexosaminidase β-chain alleles segregating in a South African family

1 reference

12 December 2020

Physiological genetics--who needs it?

1 reference

12 December 2020

Beta-thalassemia disease prevention: genetic medicine applied.

1 reference

12 December 2020

Genetics and biochemistry of the phenylketonuria-present state

1 reference

12 December 2020

"Inborn errors of metabolism" and "chemical individuality", two ideas of Sir Archibald Garrod briefly revisited 50 years after his death.

1 reference

12 December 2020

Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria

1 reference

12 December 2020

Age at onset and causes of disease

1 reference

12 December 2020

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Window panes of eternity. Health, disease, and inherited risk

1 reference

12 December 2020

Homeostasis. VII. A conspectus

1 reference

12 December 2020

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

12 December 2020

Normal plasma free amino acid values in adults: the influence of some common physiological variables.

1 reference

12 December 2020

L-Glutaric acidemia: investigation of a patient and his family

1 reference

12 December 2020

The Canadian Rutherford Lecture - An evolutionary view of disease in man

1 reference

12 December 2020

Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts

1 reference

12 December 2020

Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

1 reference

12 December 2020

Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells

1 reference

12 December 2020

Hematological Phenotype of the Double Heterozygous State for Alpha and Beta Thalassemia

1 reference

12 December 2020

Polymorphism and the subunit structure of enzymes: a contribution to the neutralist-selectionist controversy

1 reference

12 December 2020

Sick individuals and sick populations

1 reference

12 December 2020

Functional inactivation of genes by dominant negative mutations

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799283

1 reference

Dimensions Publication ID

31 August 2017

1038421447

0 references

1 reference