Heritable catabolic and anabolic disorders of lipid metabolism (Q39132617)

9 September 2017

Heritable catabolic and anabolic disorders of lipid metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A13262

inborn error of lipid metabolism

8 October 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A13262

8 October 2022

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

15 October 2022

author name string

R. O. Brady

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A13262

8 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=13262

8 October 2022

publication date

1 March 1977

1 reference

full work available at URL

9 September 2017

17

1 reference

based on heuristic

inferred from page(s)

https://api.elsevier.com/content/article/PII:0026049577900804?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

https://api.elsevier.com/content/article/PII:0026049577900804?httpAccept=text/plain

15 October 2022

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

15 October 2022

1 reference

9 September 2017

26

1 reference

9 September 2017

3

1 reference

9 September 2017

329-345

1 reference

Cerebroside synthesis in Gaucher's disease

9 September 2017

1

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

15 October 2022

2

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

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

15 October 2022

3

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood

15 October 2022

5

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Identification of heterozygous carriers of lipid storage diseases. Current status and clinical applications

15 October 2022

6

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology

15 October 2022

9

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease

15 October 2022

11

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Krabbe's Globoid Cell Leukodystrophy: Deficiency of Galactocerebrosidase in Serum, Leukocytes, and Fibroblasts

15 October 2022

13

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

In utero diagnosis of globoid cell leukodystrophy (Krabbe's disease)

15 October 2022

14

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

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

15 October 2022

16

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood

15 October 2022

17

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Infantile metachromatic leukodystrophy

15 October 2022

18

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN THREE HUMAN DISORDERS OF GLYCOLIPID METABOLISM

15 October 2022

19

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Metachromatic leukodystrophy (MLD). X. Immunological studies of the abnormal sulfatase A

15 October 2022

20

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

15 October 2022

The Sphingolipidoses

21

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Enzymatic Defect in Fabry's Disease

15 October 2022

22

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Lactosylceramide galactosidase: Comparison with other sphingolipid hydrolases in developing rat brain

15 October 2022

24

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Fabry's Disease: Alpha-Galactosidase Deficiency

15 October 2022

25

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Fabry's Disease: Antenatal Detection

15 October 2022

26

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease

15 October 2022

27

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue

15 October 2022

29

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

15 October 2022

30

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

15 October 2022

31

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Prenatal diagnosis of Tay-Sachs disease.

15 October 2022

32

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Tay-Sachs Disease: Prenatal Diagnosis

15 October 2022

33

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Ganglioside catabolism in hexosaminidase A-deficient adults.

15 October 2022

34

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Generalized gangliosidosis: beta-galactosidase deficiency.

15 October 2022

35

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.

15 October 2022

36

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Gm1-gangliosidosis type I: In utero detection and fetal manifestations

15 October 2022

37

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Prenatal diagnosis of G M1 -gangliosidosis.

15 October 2022

38

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Mucopolysaccharidosis by absence of alpha-fucosidase

15 October 2022

39

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

alpha-L-Fucosidase in normal and deficient individuals

15 October 2022

42

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis)

15 October 2022

43

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

The biochemical defect in Farber's disease

15 October 2022

44

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Replacement Therapy for Inherited Enzyme Deficiency

15 October 2022

46

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Investigations in enzyme replacement therapy in lipid storage diseases

15 October 2022

47

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.

15 October 2022

48

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Hereditary Diseases?Causes, Cures, and Problems

15 October 2022

51

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

GM3 (hematoside) sphingolipodystrophy

15 October 2022

54

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

GM3 gangliosidosis: a novel human sphingolipodystrophy

15 October 2022

55

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Cerebral Sponginess and GM3, Gangliosidosis: Ultrastructure and Probable Pathogenesis

15 October 2022

56

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis

15 October 2022

57

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Enzymatic block in the synthesis of gangliosides in DNA virus-transformed tumorigenic mouse cell lines

15 October 2022

59

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Simian virus 40 in polio vaccine: follow-up of newborn recipients

15 October 2022

62

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

The enzymology of myelination

15 October 2022

63

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Thyrotropin-ganglioside interactions and their relationship to the structure and function of thyrotropin receptors

15 October 2022

64

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Biosynthesis and Function of Gangliosides

15 October 2022

66

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Deactivation of Cholera Toxin by Ganglioside

15 October 2022

67

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

Binding of interferon to gangliosides

15 October 2022

69

1 reference

https://api.crossref.org/works/10.1016/0026-0495(77)90080-4

15 October 2022

Identifiers

1 reference

9 September 2017

1 reference