(Q36050075)

11 August 2017

The genetic mechanism of galactosaemia (English)

1 reference

11 August 2017

HUGH-JONES K

1

1 reference

11 August 2017

NEWCOMB AL

series ordinal

2

1 reference

11 August 2017

HSIA DY

series ordinal

3

1 reference

11 August 2017

language of work or name

English

0 references

publication date

1 December 1960

1 reference

Archives of Disease in Childhood

11 August 2017

1 reference

11 August 2017

35

1 reference

11 August 2017

521-528

1 reference

A PROCEDURE FOR DETECTING CARRIERS OF GALACTOSEMIA

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

Galactose cataractogenesis; review of literature and case report

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

Galactosemia and its relation to Laennec's cirrhosis; review of the literature and presentation of six additional cases.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

Idiopathic galactose intolerance in a premature infant

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

A Study of the Genetics of Galactosaemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

A clinical and biochemical study of galactosaemia; a possible explanation of the nature of the biochemical lesion

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

Congenital galactosemia, a single enzymatic block in galactose metabolism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

Some disturbances of erythrocyte metabolism in galactosaemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

Galactosemia; a case report with a review of the literature.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

A Case of Galactosaemia with Special Reference to Mental Development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

Hyperamino-aciduria in Lignac-Fanconi disease, in galactosaemia and in an obscure syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2012648

Galactosemia in infancy report of a case with observation for 24 months

23 September 2018

1 reference

12 December 2020

Diagnosis and treatment of galactosaemia

1 reference

12 December 2020

Case of galactosemia identified in a four day old infant by paper chromatographic technic

1 reference

12 December 2020

Congenital galactosemia

1 reference

12 December 2020

Human galactosemia cataract; report of a case

1 reference

12 December 2020

1 reference

12 December 2020

[Galactosemia with a discussion of the peculiarity of galactose metabolism.]

1 reference

12 December 2020

The Heterozygous Carrier in Galactosæmia

1 reference

12 December 2020

1 reference

12 December 2020

Blood galactose in infants and children

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Galactosemia cataract; report of a case

1 reference

12 December 2020

1 reference

12 December 2020

CLINICOPATHOLOGICAL reports; from the case records of the Medical College of Virginia and the University of Virginia hospitals

1 reference

12 December 2020

Cataracts in galactosemia

1 reference

12 December 2020

Congenital galactosaemia; report of a case

1 reference

12 December 2020

Galactosemia; report of case with autopsy

1 reference

12 December 2020

1 reference

12 December 2020

Differentiation of chronic galactosemia and milk allergy in early childhood

1 reference

12 December 2020

Cataracts in galactosemia; observations in three cases

1 reference

12 December 2020

Galactosemia; an unusual cause of neonatal jaundice

1 reference

12 December 2020

Galactosemia. Report of four cases

1 reference

12 December 2020

[Galactosemia; general considerations and review of a case]

1 reference

12 December 2020

[First case of congenital galactosemia in Algeria]

1 reference

12 December 2020

Enzymic evidence of a galactosemic trait in parents of galactosemic children

1 reference

12 December 2020

Enzymatic deficiency in congenital galactosemia and its heterozygous carriers

1 reference

12 December 2020

1 reference

12 December 2020

Case of galactosemia in infant

1 reference

12 December 2020

Disorders of glycogen metabolism; with special reference to glycogen storage disease and galactosemia

1 reference

12 December 2020

Galactosemia, a congenital defect in a nucleotide transferase

1 reference

12 December 2020

Galactosemia in an eight day old infant

1 reference

12 December 2020

Studies on the heterozygous carrier in galactosemia

1 reference

12 December 2020

Further observations on the metabolism of galactose in infants and children

1 reference

12 December 2020

1 reference

12 December 2020

Galactosemic cataracts; a report of two cases

1 reference

12 December 2020

[A case of galactosemia in a two-month-old infant]

1 reference

12 December 2020

Galactosaemia presenting with gangrene of the right foot

1 reference

12 December 2020

Low-lactose milk for congenital galactosaemia

1 reference

12 December 2020

[Familial fatty degeneration of the liver associated with galactosemia]

1 reference

12 December 2020

[Late mild forms of galactosemia in two brothers; clinical interpretation and genetic classification of the disease]

1 reference

12 December 2020

Galactosemia with cataracts; report of a case, with notes on physiopathology

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.35.184.521

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

13716617

1 reference