About: Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype

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About: Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 1990

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 1990 (uk) im Januar 1990 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 1990 (ast) artikull shkencor i botuar më 01 janar 1990 (sq) scientific article published on 01 January 1990 (en)
publication date	wds:Q67674995-40FF95ED-0B19-482F-80AB-46D05CA61EE7
publication date	1990-01-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q67674995-FBF06B6A-EB50-4B93-A297-9E5D25B29DD3
exact match	https://scigraph.springernature.com/pub.10.1007/bf01799379
cites work	wds:Q67674995-8039C7ED-FC4B-428C-89DD-ADAFA8DAC695 wds:Q67674995-981F47CF-05CA-40B0-ACDC-D0D971EA8D1E wds:Q67674995-99A5BD50-8441-49BB-8EC8-00B69C804B9A wds:Q67674995-BF8015B1-F7F6-4537-B505-9BC8E66AA16D wds:Q67674995-E05E0371-C19D-4562-B3D7-41FD03002E4F wds:Q67674995-F1863D7D-355E-46ED-9AA5-A5BE0997880F
cites work	"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers Inborn errors of pterin metabolism Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver Phenylalaninaemia. Differential diagnosis Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis
author name string	wds:Q67674995-18746F17-0A89-44F8-98AD-65B01CB420F2 wds:Q67674995-1C9150A6-3ED0-4A14-A789-C028963EE3BE wds:Q67674995-256CC812-00BC-41BF-8854-E6C75A914AD7 wds:Q67674995-2FAB72F9-2E94-4B1F-BDBE-94990A42E036 wds:Q67674995-4422F02B-67DC-4CFF-A626-27F592A3624F
author name string	A Ponzone I Dianzani W Endres G B Ferrero O Guardamagna
rdfs:label	Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (en) Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (nl) Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (sq)
skos:prefLabel	Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (en) Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (nl) Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (sq)
name	Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (en) Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (nl) Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (sq)
author	wds:Q67674995-4C14401E-F14B-4595-8665-144D932DF875
author	Nenad Blau
title	wds:Q67674995-CECC669E-DC36-4CC3-91C9-339434746513
title	Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (en)
page(s)	wds:Q67674995-D9E4CD9E-0AA2-4CED-9B79-03B53D982BE4
page(s)	298-300
instance of	wds:Q67674995-CDDC3CB5-7730-4766-A518-76AA3107E34C
instance of	scholarly article
main subject	wds:Q67674995-82ED8678-93C7-431D-8C1A-3B13ED3C729D
main subject	phenotype
PubMed ID	wds:Q67674995-F3F3EBF1-210C-424A-8EDD-15906F5FF68B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/1700190
PubMed ID	1700190
published in	wds:Q67674995-7662A039-DE0A-4B1B-A158-C55B5815FBF8
published in	Journal of Inherited Metabolic Disease
issue	wds:Q67674995-DEBBBABB-B0BC-4D77-9C88-954E308A80B3
volume	wds:Q67674995-5F6CFDBE-7963-4613-821A-572A73F8D669
issue	3
volume	13
DOI	wds:Q67674995-F61A5184-161F-4958-8891-9B0BCA32D2A1
DOI	http://dx.doi.org/10.1007/BF01799379
DOI	10.1007/BF01799379
Dimensions Publication ID	wds:Q67674995-1A0D151C-59D6-46BB-8E0C-94A1B7370AC0
Dimensions Publication ID	1018309151
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q67674995
is cites work of	An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families A requirement for Gch1 and tetrahydrobiopterin in embryonic development Abnormalities of biogenic amine metabolism Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients
is cites work of	wds:Q28594127-00E61026-3652-4AA8-A291-402D71C5CFFA wds:Q40865058-CCC1229E-6D47-4426-98DB-25F2207AC180 wds:Q45831625-7E67E985-C331-4052-A02D-B1923B5CFED0 wds:Q102377868-CBFD5984-C3D2-48F3-BC8A-467831583D5F wds:Q28142580-4564A2FC-55F7-4C27-8D4B-C10E7B48C54B wds:Q97527496-9ED1EC13-AE64-4B44-8F45-3E2E8B438505 wds:Q28243574-5DFF28DB-3100-40A9-8C39-2BC7CFFC81DD wds:Q67836129-BC94E87D-31F6-428C-88E5-8C90E06E413F

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