About: Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism

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About: Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism Goto Sponge NotDistinct Permalink

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scientific article published in The Lancet

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rdf:type	Item
description	artículu científicu (ast) wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 1970 (uk) article publié dans la revue scientifique The Lancet (fr) scientific article published in The Lancet (en) ശാസ്ത്രപ്രബന്ധം (ml) im September 1970 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57462535-1867E19F-4426-46DB-934E-9322EBEAD433
publication date	1970-09-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57462535-C91B8ACE-B6F5-4800-AE89-E2AB02DAE0F7
language of work or name	English
author name string	wds:Q57462535-005E1724-7B8C-490A-A307-CC2E25A2E188 wds:Q57462535-1573B011-6F33-47C9-9761-71675820700B wds:Q57462535-9957E6C5-6EC1-443E-AA22-2221B4D022A7 wds:Q57462535-AB6C09DD-EA4E-496C-ACD3-9566FE602ECC wds:Q57462535-D032D895-0281-49C9-B6E6-8737DE38FDC0
author name string	E Jellum P E Waaler O Stokke H Pande L Eldjarn
rdfs:label	Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism (en) Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism (nl)
skos:prefLabel	Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism (en) Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism (nl)
name	Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism (en) Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism (nl)
title	wds:Q57462535-D805FF27-5494-4243-AC1B-33421BA6F9C2
title	Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism (en)
page(s)	wds:Q57462535-CDC5DA6E-543E-428D-B383-90720D58D0A8
page(s)	521-522
instance of	wds:Q57462535-8FD9A07F-CCD8-4EAF-9A07-B8049652280E
instance of	scholarly article
PubMed ID	wds:Q57462535-BC19FECA-B932-48BE-918D-607725891835
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/4194964
PubMed ID	4194964
published in	wds:Q57462535-A2D27924-E587-46A0-99AB-6EF75D0F3A1C
published in	The Lancet
issue	wds:Q57462535-D84F9836-702D-4446-81D6-491BF6973884
volume	wds:Q57462535-1C2B5A9C-6396-4488-9932-AA2F6EAD2B1B
issue	7671
volume	2
DOI	wds:Q57462535-6CF3FD53-3BAB-425E-B0B9-84EF879E6A99
DOI	http://dx.doi.org/10.1016/S0140-6736(70)90140-6
DOI	10.1016/S0140-6736(70)90140-6
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57462535
is cites work of	Profiling of human body fluids in healthy and diseased states using gas chromatography and mass spectrometry, with special reference to organic acids Screening for Metabolic Disorders Using Gas-Liquid Chromatography, Mass Spectrometry, and Computer Technique The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias Beta-methylcrotonic aciduria associated with lactic acidosis Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria Biotin-responsive beta-methylcrotonylglycinuria Gas chromatographic mass spectrometric identification ofN-dicarboxylmonoglycines Excretion of tiglyglycine in propionic acidemia Crotonic acid, an artefact in screening for organic acidaemias Urinary bacteria: potential source of some organic acidurias Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis Inborn errors of organic acid metabolism Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System Metabolic profiling with gas chromatography-mass spectrometry and its application to clinical medicine Biotin-responsive alopecia and developmental regression Organic aciduria in neonatal multiple carboxylase deficiency Organic aciduria in hypoxic premature newborns simulating an inborn error of metabolism Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency. Evidence for the enzymic defect in β-methylcrotonylglycinuria Inherited disorders of 3-methylcrotonyl CoA carboxylation Organic aciduria. Treatable cause of floppy infant syndrome Studies on cultured fibroblasts from patients with defects of biotin‐dependent carboxylation Identification of N-acylglycines by gas-liquid chromatography Enzyme studies in biotin-responsive disorders Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia 4-Hydroxycyclohexane-1-carboxylic acid: An unusual compound isolated from the urine of children with suspected disorders of metabolism An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. N-acylglycines: Gas chromatographic mass spectrometric identification and determination in urine by selected ion monitoring Thin-layer chromatographic detection of some N-acylglycine conjugates in urine Vitamin-Responsive Inborn Errors of Metabolism Food intolerance in humans
is cites work of	wds:Q39873283-933F6D7B-CDED-4D02-AA63-925DE35AF3EA wds:Q43589803-1A83DE2C-E10A-4B36-BA48-F6F24E7D2805 wds:Q66959702-AA05F4A3-74F8-4318-A49B-743A964F46DA wds:Q72510370-171E9434-F142-4F8B-9B52-42364BACC4EB wds:Q28331597-B526C2A1-533E-4608-BDD5-B28380F88634 wds:Q35150955-FC9178AF-54F5-4244-9D51-54CEEDF3C03F wds:Q39394389-D4D7B795-7042-4BDB-B9A6-0175B9FED31A wds:Q66882596-835C625C-3DEE-46B4-8683-A2AF5FDEEDF3 wds:Q34989336-73B2D5F2-9260-4F63-B72C-8FBE68A2B776 wds:Q40296178-C6FC2216-2CDD-4521-B53B-41239532E1AD wds:Q54349826-8F220B12-CEE4-4A74-89F1-197F42AE0AA9 wds:Q67235639-A9A267D4-F985-483E-8EC5-2DCA0C0FEAED wds:Q69359646-D6E451C4-A32E-4635-B7DF-D11D919C8C20 wds:Q71162249-4139B149-E248-4FC2-B35E-1585F5676C31 wds:Q69546122-B8A5E278-945A-4451-B93E-AA78D16B8562 wds:Q28341874-B3A981A5-BA18-4B77-B4CA-19C16C10E2DE wds:Q38150536-C289441B-8E8E-447F-A9FA-1BAF495F65B1 wds:Q54078073-EE68962A-CBE8-4583-BB96-243F20CB5714 wds:Q66934650-894868E4-826B-440B-BF94-1BB9B5446EF1

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