About: Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia

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About: Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia Goto Sponge Distinct Permalink

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scientific article published on 01 May 1982

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 1982 (uk) im Mai 1982 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en mayu de 1982 (ast) scientific article published on 01 May 1982 (en)
publication date	wds:Q70314353-26B29D58-C252-4A44-852F-B1A0BA6B3112
publication date	1982-05-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q70314353-897A9BBB-78A3-417B-B902-1BA941F91626
language of work or name	English
cites work	wds:Q70314353-023560F1-7122-4774-8E00-601F64976890 wds:Q70314353-0BBB2D70-F0AE-4388-975F-6312741DA360 wds:Q70314353-10C66DDE-64A2-47ED-8F87-78095E62476D wds:Q70314353-11AA89AB-3A22-409A-B8C5-4CBB2978656E wds:Q70314353-3BC11F34-F74F-4EA2-A3BC-349FCB79B078 wds:Q70314353-439C2AA9-6820-4F4F-8D59-DAD586123425 wds:Q70314353-57D34DBD-D600-48D2-93B2-40EF66AA869B wds:Q70314353-5FD92E3C-2813-434A-8FD2-99FE24FAFB57 wds:Q70314353-7CBB456A-284B-4F68-B2AB-091FD95FCAF5 wds:Q70314353-829C77A4-6081-4EB8-8475-0AE1716E11A2 wds:Q70314353-84855EB3-EE0D-4592-9603-DD957E943F04 wds:Q70314353-A5D4685B-129F-4184-8BCE-F2D1DA0AC66C wds:Q70314353-A8FDE050-4D54-470A-AB0A-DE263D86B799 wds:Q70314353-AA020433-CBF8-4418-A7BC-DD27C9A01D77 wds:Q70314353-C6B7F82C-ED26-43D4-A8CB-DD9B4C8CF6E9 wds:Q70314353-D0632F45-96DC-4BA6-8391-C62D20DDBFC6 wds:Q70314353-D397C285-3063-403D-83F0-B7A556000428 wds:Q70314353-EBB63111-F73D-48E9-907B-6A828B8E8070 wds:Q70314353-F7A68E26-A243-4989-A2E0-7F9A8A9B1F0F
cites work	Newborn screening for galactosemia and other galactose metabolic defects Electrophoretic Variation of Galactose-1-Phosphate Uridyltransferase Some disturbances of erythrocyte metabolism in galactosaemia Galactosemia: evidence for a structural gene mutation Interallelic Complementation in Hybrid Cells Derived from Human Diploid Strains Deficient in Galactose-1-Phosphate Uridyl Transferase Activity Hypergonadotropic hypogonadism in female patients with galactosemia A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY The value of galactose phosphate determinations in the treatment of galactosaemia Galactose metabolism and galactosemia Estimation of galactose-1-phosphate in erythrocytes: A rapid and simple enzymatic method Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: Clinical and biochemical studies Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote Significance of the duarte/classical galactosemia genetic compound [Determination of galactose-1-phosphate uridyl transferase in capillary blood in galactosemia. Use in family examinations] Evidence for accessory pathway of galactose metabolism in mammalian liver Studies of lactose absorption in patients with galactosemia Some characteristics and developmental aspects of rat uridine diphosphogalactose 4-epimerase Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency Study of a family with both galactosemic and Duarte variants of galactose-1-phospho uridyl transferase.
author name string	wds:Q70314353-0EA0F5DA-16B4-4481-B8F4-2FEBC6C2AFD1 wds:Q70314353-0F137ABC-895C-414E-A3D0-BB7A21868FBE wds:Q70314353-1C95C41B-1E36-4094-8D39-D0B91AC39DAA wds:Q70314353-C6A22863-B87E-4A0F-95B7-77C797D35111 wds:Q70314353-D7CCD823-380E-4298-852A-D881E8DB38EF wds:Q70314353-EA9D8055-29C3-4DBA-B44A-E5C8DD9DA0F5
author name string	H P Schwarz A Zimmerman D M Bier R Scherz H Dauwalder K A Zuppinger
rdfs:label	Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia (en) Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia (nl)
skos:prefLabel	Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia (en) Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia (nl)
name	Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia (en) Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia (nl)
title	wds:Q70314353-AD43D9BD-D030-4C85-BCB3-5B8B83260D3A
title	Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia (en)
page(s)	wds:Q70314353-5D5455A6-010F-4465-85E7-9F0FD464E6DB
page(s)	704-709
instance of	wds:Q70314353-9C5B07F2-BEC9-47BF-93A2-367CA6ECCDEB
instance of	scholarly article
main subject	wds:Q70314353-240DCEC1-1B6C-4ABD-8CC5-F2F96CA4A22F
main subject	heterozygosity
PubMed ID	wds:Q70314353-AC912050-F287-4416-8BEF-2A4A0868F544
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7069531
PubMed ID	7069531
published in	wds:Q70314353-F7AD8AF1-6BC1-4159-9AFC-87FA30F595B0
published in	The Journal of Pediatrics
issue	wds:Q70314353-5F754CF3-0FA3-4351-A842-589DA8D5DBFE
volume	wds:Q70314353-AE2721D4-EB8E-4AC5-84B1-569F7CF988A9
issue	5
volume	100
DOI	wds:Q70314353-C7162DA6-522B-4BC7-8590-16687B0A6ECD
DOI	http://dx.doi.org/10.1016/S0022-3476(82)80568-4
DOI	10.1016/S0022-3476(82)80568-4
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q70314353
is cites work of	Komrower Lecture. Galactosaemia today: the enigma and the challenge. Perinatal galactose metabolism 10 Metabolic acidosis in the newborn period Partial deficiency of galactose-1-phosphate uridyltransferase. Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening Definition of heterozygosity Development of a protocol for newborn screening for disorders of the galactose metabolic pathway Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype Gonadal failure in young women and galactose-1-phosphate uridyl transferase activity Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese Other hereditary diseases and the liver
is cites work of	wds:Q40480889-98D970C8-75F1-45C9-8F43-D2D372DA6F50 wds:Q70517801-1346DBF9-5279-4D73-8F10-847DEA2C8B62

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