About: Deficiency of erythrocyte galactokinase in a patient with galactose diabetes

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About: Deficiency of erythrocyte galactokinase in a patient with galactose diabetes Goto Sponge NotDistinct Permalink

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scientific article published on 01 October 1965

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в жовтні 1965 (uk) scientific article published on 01 October 1965 (en) im Oktober 1965 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'ochobre de 1965 (ast)
publication date	wds:Q70060456-DBFCF952-6E5A-4C67-9B17-455ADE55AE2E
publication date	1965-10-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q70060456-BC1D95DB-24C4-4FA4-B363-DB47085D5D73
language of work or name	English
cites work	wds:Q70060456-48EB9B5C-309A-4CFA-844F-C7E31F3DC2A2 wds:Q70060456-599CA5CE-495B-474A-9545-79FD82B6545B wds:Q70060456-A9BAE559-806C-430B-A778-98BA5A13B40E wds:Q70060456-F8ACAEE1-CF2C-4B7C-B040-395373A94730
cites work	THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT HEREDITARY DEFECTS IN GALACTOSE METABOLISM IN ESCHERICHIA COLI MUTANTS, I. DETERMINATION OF ENZYME ACTIVITIES A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY Familial fructose and galactose intolerance
author name string	wds:Q70060456-B353245B-DD65-452C-A691-0546E48C266B
author name string	R Gitzelmann
rdfs:label	Deficiency of erythrocyte galactokinase in a patient with galactose diabetes (en) Deficiency of erythrocyte galactokinase in a patient with galactose diabetes (nl)
skos:prefLabel	Deficiency of erythrocyte galactokinase in a patient with galactose diabetes (en) Deficiency of erythrocyte galactokinase in a patient with galactose diabetes (nl)
name	Deficiency of erythrocyte galactokinase in a patient with galactose diabetes (en) Deficiency of erythrocyte galactokinase in a patient with galactose diabetes (nl)
title	wds:Q70060456-337E1653-ACC3-47F4-B0DC-777E37BD4938
title	Deficiency of erythrocyte galactokinase in a patient with galactose diabetes (en)
page(s)	wds:Q70060456-F534FAC9-9479-4ECC-96FD-AA63050306A5
page(s)	670-671
instance of	wds:Q70060456-9FD84C6E-DBCC-4B5C-B6E1-9D7A88E80DA5
instance of	scholarly article
PubMed ID	wds:Q70060456-C5F45F80-FBEE-4CA6-84AD-867FC4B7A08C
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/4158218
PubMed ID	4158218
published in	wds:Q70060456-48CF8E5A-772B-4F87-B87B-286E96A0519A
published in	The Lancet
issue	wds:Q70060456-7F90755E-07A6-4A07-AC52-20A20F397A9A
volume	wds:Q70060456-15F1FCF9-7303-4D1C-BD2B-D47A8684A439
issue	7414
volume	2
DOI	wds:Q70060456-B297B32A-6D8B-4EA5-90FA-47760C5CCDE8
DOI	http://dx.doi.org/10.1016/S0140-6736(65)90400-9
DOI	10.1016/S0140-6736(65)90400-9
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q70060456
is cites work of	Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child Galactokinase Deficiency and Cataracts Clinical features of galactokinase deficiency:A review of the literature Clinical variants of galactosemia The Glycogenoses and Other Inherited Disorders of Carbohydrate Metabolism Cataract and metabolic disease 8 Galactokinase from human erythrocytes Innovative therapy for Classic Galactosemia - tale of two HTS. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts Galactose toxicity in animals Galactokinase deficiency presenting as pseudotumor cerebri Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model Additional findings in galactokinase deficiency Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract. Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. Efficient expression of Escherichia coli galactokinase gene in mammalian cells Detection of heterozygotes for galactokinase deficiency in a human population A case of atypical galactosemia(author's transl) Features and outcome of galactokinase deficiency in children diagnosed by newborn screening Galactitol and galactose-1-phosphate in the lens of a galactosemic infant Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies) Galactose metabolism of the red cell Inability of galactose to mobilize insulin in galactokinase-deficient individuals [Congenital cataract: general review] Galactokinase deficiency in a newborn infant Hereditary galactokinase deficiency The relationship of galactose-1-phosphate accumulation and uridyl transferase activity to the differential galactose toxicity in male and female chicks Test Paper for Galactose in Urine Galactokinase deficiency and mental retardation Characteristics of galactokinase and galactose-1-phosphate uridyltransferase in cultivated fibroblasts and amniotic fluid cells Purification and Properties of Galactokinase from Human Red Blood Cells The eye and the chromosome Galactose metabolism of mammalian erythrocytes Polyphosphate nucleosides of crystallin. Their development during differentiation, aging and galactose overload Cytogenetics and Genetics Conservative cataract therapy; clinical and experimental The Galactose Metabolic Pathway Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data Recent studies on galactosaemia, phenylketonuria and homocystinuria Automated Blood Galactose Analysis as a Screening Method for Galactosaemia in Milk-Fed Newborns Galactose in the urine of newborn infants Galactokinase deficiency: lessons from the GalNet registry Detection of inborn errors of metabolism. IV. Galactokinase deficiency Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency Uridine diphosphate galactose 4-epimerase deficiency Galactosemic enzyme levels in presenile cataracts Disorders of galactose metabolism Food intolerance in humans Richard Gitzelmann (23rd February 1930--31st October 2013). Relation between galactose and the crystalline lens
is cites work of	wds:Q37827343-07B31B4F-6E35-4976-9749-41D1BC51F4DE wds:Q41935789-101DE7DC-39B3-4745-8182-91C24BF2A83D wds:Q39918751-255AB560-4D41-4AD7-8D41-F9799CCB4A6F wds:Q40003452-981AED8E-E600-4DD2-9FD1-EF76A1306D8B

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