(Q40047396)

16 September 2017

1 reference

title

Clinical variants of galactosemia (English)

1 reference

16 September 2017

0 references

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

4 May 2023

author name string

D. Y. Hsia

1

1 reference

PubMed ID

5337683

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5337683

4 May 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

PubMed ID

5337683

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5337683

4 May 2023

publication date

1 May 1967

1 reference

full work available at URL

16 September 2017

19

1 reference

based on heuristic

inferred from page(s)

https://api.elsevier.com/content/article/PII:0026049567901333?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

https://api.elsevier.com/content/article/PII:0026049567901333?httpAccept=text/plain

4 May 2023

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

4 May 2023

1 reference

16 September 2017

16

1 reference

16 September 2017

419-437

1 reference

16 September 2017

5

1 reference

Growth and development of children with galactosemia

16 September 2017

3

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Variability in the clinical manifestations of galactosemia

4 May 2023

4

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Uridyl Transferases and the Formation of Uridine Triphosphate : Uridyl Transferases and the Formation of Uridine Diphosphogalactose

4 May 2023

6

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

GALACTOSE METABOLISM BY RAT LIVER TISSUE: INFLUENCE OF AGE

4 May 2023

7

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Congenital galactosemia, a single enzymatic block in galactose metabolism

4 May 2023

8

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Defect in uptake of galactose-1-phosphate into liver nucleotides in congenital galactosemia

4 May 2023

9

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Studies on cell lines developed from the tissues of patients with galactosemia

4 May 2023

10

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Detection of congenital galactosemia and the carrier state using galactose C14 and blood cells

4 May 2023

11

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Some disturbances of erythrocyte metabolism in galactosaemia

4 May 2023

14

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Further studies on the heterozygous carrier in galactosemia

4 May 2023

15

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

A study of the genetics of galactosaemia

4 May 2023

16

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Galactose-1-Phosphate Uridyl Transferase Activity in Galactosæmia

4 May 2023

17

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Identification of Galactose-6-Phosphate in Galactosæmic Erythrocytes

4 May 2023

19

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Enzymatic Oxidation of Galactose-6-phosphate

4 May 2023

20

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Hexose-6-Phosphate Dehydrogenase Found in Human Liver

4 May 2023

21

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Galactose conversion to D-xylulose: an alternate route of galactose metabolism

4 May 2023

22

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

A specific enzymatic assay for the diagnosis of congenital galactosemia. I. The consumption test

4 May 2023

23

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

A PROCEDURE FOR DETECTING CARRIERS OF GALACTOSEMIA

4 May 2023

24

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

The Heterozygous Carrier in Galactosæmia

4 May 2023

26

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Studies on the heterozygous carrier in galactosemia

4 May 2023

27

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Galactosemia: a study of twenty-seven kindreds in North America

4 May 2023

29

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

GALACTOSAEMIA LOCUS AND THE DOWN'S SYNDROME CHROMOSOME

4 May 2023

30

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ASSAY BY USE OF RADIOACTIVE GALACTOSE-1-PHOSPHATE

4 May 2023

31

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Biochemical differentiation of trisomic Down's syndrome (mongolism) from that due to translocation

4 May 2023

32

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytes

4 May 2023

33

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

LEUCOCYTE ENZYMES IN DOWN'S SYNDROME

4 May 2023

34

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT

4 May 2023

35

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

[Studies on the activity of galactokinase in the blood of normal persons and of patients with GDo trisomy]

4 May 2023

36

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Deficiency of erythrocyte galactokinase in a patient with galactose diabetes

4 May 2023

37

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Enzymes in trisomy-18 syndrome

4 May 2023

40

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Screening newborn infantsfor galactosemia

4 May 2023

43

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

[A new method for the detection of congenital galactosemia]

4 May 2023

45

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

STUDIES ON GALACTOSE OXIDATION IN DOWN'S SYNDROME

4 May 2023

46

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Galactose Metabolism : Phenotypic Differences among Tissues of a Patient with Congenital Galactosæmia

4 May 2023

47

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Enzymic evidence of a galactosemic trait in parents of galactosemic children

4 May 2023

48

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Oxidation of Carbon-14 Labeled Galactose by Subjects with Congenital Galactosemia

4 May 2023

49

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

THE METABOLISM OF GALACTOSE BY PATIENTS WITH CONGENITAL GALACTOSEMIA

4 May 2023

52

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY

4 May 2023

53

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Electrophoretic Variation of Galactose-1-Phosphate Uridyltransferase

4 May 2023

55

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

ENHANCEMENT OF ERYTHROCYTE-GALACTOKINASE ACTIVITY IN LANGDON-DOWN TRISOMY

4 May 2023

59

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

Granulopoiesis in Down's syndrome

4 May 2023

60

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

A MICRODIFFUSION TEST FOR CONGENITAL GALACTOSEMIA UTILIZING GALACTOSE-1-C14

4 May 2023

62

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

A clinical test for galactosemia. The galactose-methemoglobin test

4 May 2023

63

1 reference

https://api.crossref.org/works/10.1016/0026-0495(67)90133-3

4 May 2023

Identifiers

1 reference

16 September 2017

1 reference

PubMed ID

5337683