(Q39975282)

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Genetic Heterogeneity

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scholarly article

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Europe PubMed Central

PubMed publication ID

16 September 2017

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Europe PubMed Central

Genetic Heterogeneity (English)

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

1 reference

based on heuristic

inferred from title

medical genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4880016

13 March 2023

author name string

Childs B

1

1 reference

Europe PubMed Central

PubMed publication ID

16 September 2017

Der Kaloustian VM

2

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Europe PubMed Central

PubMed publication ID

16 September 2017

language of work or name

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publication date

1 December 1968

1 reference

Europe PubMed Central

PubMed publication ID

16 September 2017

full work available at URL

http://www.nejm.org/doi/pdf/10.1056/NEJM196812052792306

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

The New England Journal of Medicine

1 reference

Europe PubMed Central

PubMed publication ID

16 September 2017

279

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Europe PubMed Central

PubMed publication ID

16 September 2017

23

1 reference

Europe PubMed Central

PubMed publication ID

16 September 2017

1267-74 concl

1 reference

Europe PubMed Central

PubMed publication ID

16 September 2017

Quantitative disparity between hemoglobins. Natural models for the analysis of the control of protein biosynthesis

1

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Hypophosphatasia; a new developmental anomaly

2

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Progressive oral gangrene probably due to lack of catalase in the blood (acatalasaemia); report of nine cases

4

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Galactosemia, a congenital defect in a nucleotide transferase

6

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Enzymatic Deficiency in Primaquine-Sensitive Erythrocytes

7

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

The metabolism of iodotyrosines. III. Di-iodotyrosine deshalogenating activity of human thyroid tissue

8

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Bilirubin glucuronide formation in vitro; demonstration of a defect in Gilbert's disease

10

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

In vitro hydroxylation of steroids by whole adrenal homogenates of beef, normal man, and patients with the adrenogenital syndrome

11

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE.

14

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

The enzymic defect of hereditary methemoglobinemia: diaphorase

15

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA.

17

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

The enzymatic defect in histidinemia

19

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea

21

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

A ‘Silent’ Pseudocholinesterase Gene

22

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

24

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

28

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY

31

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Congenital non-spherocytic hemolytic anemia by 2,3-diphosphoglycerate mutase deficiency of the erythrocytes in early infancy

32

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

34

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE".

35

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT.

36

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

EVIDENCE FOR THE GENETIC BLOCK IN METACHROMATIC LEUCODYSTROPHY (ML).

37

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Cystathioninuria: nature of the defect

38

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

39

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

40

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Isovaleric acidemia: a new genetic defect of leucine metabolism

41

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease

42

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis

43

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Hereditary hemolytic anemia with hexokinase deficiency. Role of hexokinase in erythrocyte aging

45

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

46

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Deficiency of 2-oxo-glutarate: glyoxylate carboligase activity in primary hyperoxaluria

48

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Enzymatic Defect in Fabry's Disease

49

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Sulfite Oxidase Deficiency in Man: Demonstration of the Enzymatic Defect

50

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Refsum's disease: nature of the enzyme defect

52

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Deficiency of erythrocyte nicotinamide adenine dinucleotide nucleosidase (NADase) activity in the Negro.

53

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

L-glyceric aciduria. A new genetic variant of primary hyperoxaluria

55

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

57

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Generalized gangliosidosis: beta-galactosidase deficiency.

58

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Phenylalanine-hydroxylase activity in hyperphenylalaninaemia

59

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

A third allele at the phenylalanine-hydroxylase locus in mild phenylketonuria (hyperphenylalaninaemia)

62

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults

64

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Enhancement of glucuronide-conjugating capacity in a hyperbilirubinemic infant due to apparent enzyme induction by phenobarbital

65

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Latent cystathioninuria

66

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease

67

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

The Sphingolipidoses

68

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Liver pyruvate kinase (PK) isozymes in a PK-deficient patient

70

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Nonspherocytic haemolytic anaemia and severe jaundice in a newborn with partial pyruvate kinase deficiency

73

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

On Wild-Type Iso-Alleles in Drosophila Melanogaster

79

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

GENETIC VARIATIONS IN THE QUANTITATIVE CONTROL OF ERYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE ACTIVITY

81

1 reference

10.1056/NEJM196812052792306

https://api.crossref.org/works/10.1056/NEJM196812052792306

13 March 2023

Identifiers

10.1056/NEJM196812052792306

1 reference

Europe PubMed Central

PubMed publication ID

16 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 September 2017

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