About: Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency

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About: Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency Goto Sponge NotDistinct Permalink

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scientific article published on 01 February 2006

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2006 (fr) наукова стаття, опублікована в лютому 2006 (uk) im Februar 2006 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en febreru de 2006 (ast) artikull shkencor i botuar më 01 shkurt 2006 (sq) scientific article published on 01 February 2006 (en) գիտական հոդված հրատարակված 2006 թվականի փետրվարի 1-ին (hy)
publication date	wds:Q82847326-2F988B53-49C7-41C6-8ED8-C4D0F672457E
publication date	2006-02-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q82847326-121A9272-6E45-4B20-A7AE-2F20BEFD9A77 wds:Q82847326-53DFB9F2-D3DC-4851-9D74-439E9D2A883F wds:Q82847326-7A3D6F42-F417-4A2F-8CDF-A58FEBFFAC23 wds:Q82847326-81B28EDA-5FDA-43ED-8200-AC866BFA63D5 wds:Q82847326-88DC8498-48D2-422C-A14D-5AE19BBCFEF6 wds:Q82847326-8CCE191E-8261-4040-860B-02C318103495 wds:Q82847326-9064F333-9394-4EAF-B2D5-C99250ED0342 wds:Q82847326-9582B7FE-769D-4ED1-9D13-D274C98BD1A0 wds:Q82847326-D4A94962-CD90-454A-BC18-55788E8B7E94 wds:Q82847326-E67CA3C9-FF8C-4D04-AF26-99589C126B25 wds:Q82847326-EA296BB7-812A-4203-8B36-2BE8E895D9DB wds:Q82847326-F5B90240-5109-4300-B3B2-7C7A7C27E03F
author name string	Schaper J Wagner L Hoffmann GF Mayatepek E Van Gennip AH Van Kuilenburg AB Dietrich C Rotteveel JJ Voit T Assmann B Baethmann M Göhlich G
rdfs:label	Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (en) Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (nl) Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (sq)
skos:prefLabel	Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (en) Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (nl) Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (sq)
name	Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (en) Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (nl) Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (sq)
author	wds:Q82847326-CDB74A54-9A29-48D4-9A3D-162EDCF531F4
author	Ron A. Wevers
title	wds:Q82847326-C4844567-3F20-4C62-8454-E67B0E5287E7
title	Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency (en)
page(s)	wds:Q82847326-ECFAD5DF-9627-44B4-877A-0052A45812E9
page(s)	20-25
instance of	wds:Q82847326-26AF8536-4D2A-4A75-B60D-AEC2C829C7FC
instance of	scholarly article
main subject	wds:Q82847326-B5F5A2E2-44E7-4265-9231-A271F508C70A
main subject	Beta-ureidopropionase deficiency
PubMed ID	wds:Q82847326-91CC9C7F-8BE3-49B0-B19C-DD300F6A02F1
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/16541364
PubMed ID	16541364
published in	wds:Q82847326-61B13BDE-50D6-435A-AAC3-0DD4035F7D41
published in	Neuropediatrics
issue	wds:Q82847326-2E8091A5-1CA1-442B-9BC0-695B95F1E1FC
volume	wds:Q82847326-9352CB37-3536-45F0-8BE8-ED7E84A48B92
issue	1
volume	37
DOI	wds:Q82847326-AB674412-FB8A-478E-9568-54E4CC5AEAD3
DOI	http://dx.doi.org/10.1055/S-2006-923933
DOI	10.1055/S-2006-923933
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q82847326
is cites work of	Inborn errors of purine and pyrimidine metabolism. A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected]. Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.
is cites work of	wds:Q37416449-70BBF946-5C13-44A4-822D-4A1A744A8F79 wds:Q35848700-CD91F442-48C6-4154-BDF9-34A7B9D25302 wds:Q46928078-2F738FB5-E5EC-492F-9361-484B456068A9 wds:Q34151650-04FD76E0-1D5F-4701-A599-53E97F34C0EB wds:Q61806209-88C4D51E-EEAB-4961-84BB-BDD4A5D01DC2 wds:Q48531660-B046A56E-6101-4484-BE24-5F9D7ACC8BB3

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