About: Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts

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About: Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 1985

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 1985 (uk) im Januar 1985 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 1985 (ast) artikull shkencor i botuar më 01 janar 1985 (sq) scientific article published on 01 January 1985 (en)
publication date	wds:Q69986677-E40C833A-D337-47DF-B70B-C410975ED30F
publication date	1985-01-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q69986677-8FA43A88-5C2F-4725-B0FA-00395353C176
exact match	https://scigraph.springernature.com/pub.10.1007/bf01801665
cites work	wds:Q69986677-10951923-742C-452A-A46E-985B41F8B7F1 wds:Q69986677-1367F4FA-D37E-4D49-854C-F8AE86409F63 wds:Q69986677-1E23E51B-6555-4CCC-9FC5-CD855ED105B9 wds:Q69986677-36677281-CD87-4C1D-B9CB-21FE6BBB655C wds:Q69986677-45549AC5-466F-4476-A083-3BEF1325C500 wds:Q69986677-47EF8534-E78E-4592-BA5A-1E8748B69D5E wds:Q69986677-4AFF440F-CC67-4A5B-8627-6220019B1643 wds:Q69986677-5311F913-68ED-4A27-B699-CC75B1A83F08 wds:Q69986677-5879B188-A93A-49D9-9A36-D5402F713B3D wds:Q69986677-58A2DE40-5790-45E5-9C4E-6C17977BAFD6 wds:Q69986677-727F271C-EF0C-4C0A-8E81-873D86C46F22 wds:Q69986677-759ECE04-393F-456A-9CAA-50B13363C083 wds:Q69986677-780B1ABA-564D-40BC-B058-25724FB8CD3A wds:Q69986677-904341E7-7637-42A9-920E-588D2E569795 wds:Q69986677-953B89A1-4FB9-4153-AA5D-EBF15950C8DA wds:Q69986677-98C31476-69F6-4A72-9608-E745E76E25FA wds:Q69986677-A4BD1728-9608-4F2F-9692-CBA48DEFD341 wds:Q69986677-A88A5166-761F-4838-BEB8-9A3D57343704 wds:Q69986677-BB571252-FCD2-484E-8AB1-B33F52259D18 wds:Q69986677-BC220E0F-3833-48C0-B6E0-F828028F04BD wds:Q69986677-C57ED71E-ABBE-4E37-A8FE-52988C2993C7 wds:Q69986677-C7B8C678-E86C-44DD-BBF7-B59F115076A9 wds:Q69986677-D9789446-68BC-48F2-9A68-EC193783C71F wds:Q69986677-DDE3F0E8-C35F-4065-A035-5F31E91E71B5 wds:Q69986677-EE2250F0-2E93-49AA-8400-31AFE733D063
cites work	The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency Phosphoenolpyruvate carboxykinase and pyruvate carboxylase in developing rat liver Refinement of the coomassie blue method of protein quantitation. A simple and linear spectrophotometric assay for less than or equal to 0.5 to 50 microgram of protein Kinetic analysis of genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts Lactic acidosis due to pyruvate carboxylase deficiency. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency Propionic acidemia: Diagnosis by enzyme assay in frozen leukocytes Evidence for two genetic complementation groups in pyruvate carboxylase-deficient human fibroblast cell lines Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease Deficient biotinidase activity in late-onset multiple carboxylase deficiency Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings Deficient liver biotinidase activity in multiple carboxylase deficiency Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group. The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. [3H]biotin-labeled proteins in cultured human skin fibroblasts from patients with pyruvate carboxylase deficiency Prenatal diagnosis of pyruvate carboxylase deficiency Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium
author name string	wds:Q69986677-01C41327-5033-4924-86FF-3B29445F3F8D wds:Q69986677-3A8AE2F1-0595-499E-90E0-DFCA0F559E2A wds:Q69986677-4D214B28-9C98-4C4E-AEB9-803D1DF20E71 wds:Q69986677-B27ABB66-2CFF-4532-94C3-4FC56B7EFC68 wds:Q69986677-E9FCDF6E-447C-4728-AB08-8E1F3C06022F wds:Q69986677-F9180DA8-3CEC-4E26-A072-52F2350B46FC
author name string	J M Saudubray C Marsac B H Robinson D Pham Dinh C Augereau A Moncion
rdfs:label	Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (en) Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (nl) Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (sq)
skos:prefLabel	Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (en) Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (nl) Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (sq)
name	Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (en) Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (nl) Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (sq)
title	wds:Q69986677-EAE6F8BC-917F-46A7-860E-6E1B7767814A
title	Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts (en)
page(s)	wds:Q69986677-79D941D4-9F16-4DF4-91EE-EFED6D4604E0
page(s)	59-62
instance of	wds:Q69986677-E4C8903E-425C-455A-9B5B-D85DA53DDCE2
instance of	scholarly article
PubMed ID	wds:Q69986677-EF7295C0-57B9-47C9-B4E9-BE484E18D692
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/3939532
PubMed ID	3939532
published in	wds:Q69986677-41582D7B-B8CE-4D0C-990E-4C89EC06B2C4
published in	Journal of Inherited Metabolic Disease
issue	wds:Q69986677-E243118A-E3B9-46A4-AAA0-E8402DBD6CA0
volume	wds:Q69986677-61215E5F-0F1A-4030-9A9F-E7EFF4A4F9C5
issue	2
volume	8
DOI	wds:Q69986677-5028E328-6ABA-45D2-AA1D-421E67320925
DOI	http://dx.doi.org/10.1007/BF01801665
DOI	10.1007/BF01801665

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