About: Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

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scientific article published on 01 May 1989

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 1989 (uk) im Mai 1989 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en mayu de 1989 (ast) scientific article published on 01 May 1989 (en)
publication date	wds:Q69345714-DEF06A4E-DB81-42A8-92A3-5B5BED6DB3E9
publication date	1989-05-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q69345714-432077C7-F753-490E-88F8-73EA814BFE9C
exact match	https://scigraph.springernature.com/pub.10.1203/00006450-198905000-00025
author name string	wds:Q69345714-1B2A4A6C-7D44-4216-A075-46E536C12A67 wds:Q69345714-1F5B57F2-8E90-47DA-9D65-CFA0E7A947D7 wds:Q69345714-3CAFAA05-0CA0-4E57-A056-1855E2CE0C5D wds:Q69345714-8CA52367-02B1-4929-9F6C-2803900B6A1E wds:Q69345714-90666B05-7CCE-4272-AFE2-B3F1528CBD81 wds:Q69345714-C762599A-8CB9-4321-9671-8922F3EC0662 wds:Q69345714-CEF6A7A0-1BC4-4B2B-97EB-B2406F96288C wds:Q69345714-DB4C552E-533A-4E9E-8C65-EB1FB4E63607 wds:Q69345714-E0084FC0-A323-4C3E-8EB0-E4B98EA9CBD0 wds:Q69345714-F1DA9A26-1479-47A0-9DCA-5DCCA0210937
author name string	Milligan DW Aynsley-Green A Turnbull DM Watmough NJ Darley-Usmar VM Birch-Machin MA Bartlett K Sherratt HS Shepherd IM Welch RJ
rdfs:label	Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain (en) Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain (nl)
skos:prefLabel	Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain (en) Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain (nl)
name	Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain (en) Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain (nl)
title	wds:Q69345714-B0010C67-604B-4510-85E3-9DD1026A9465
title	Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain (en)
page(s)	wds:Q69345714-68FAD84A-01B3-45CE-AEB1-0135516290EA
page(s)	553-559
instance of	wds:Q69345714-D3CE5148-A270-4F4C-93AE-0E2C11113C43
instance of	scholarly article
main subject	wds:Q69345714-4F251873-18A7-4D26-84B9-2F0A1C0089AF wds:Q69345714-E32C2979-CD7A-4706-A269-E378C3CF96E6
main subject	lactic acidosis infancy stage
PubMed ID	wds:Q69345714-F76489EA-64E8-4776-B245-A50EFDBA938E
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/2541396
PubMed ID	2541396
published in	wds:Q69345714-F832514D-7E4A-47CE-A921-12D3F419C710
published in	Pediatric Research
issue	wds:Q69345714-BC73F36E-4700-4BDD-8542-9E1D7B0AB212
volume	wds:Q69345714-B8CD946B-8EAF-49C6-93D2-67F3A32ED378
issue	5
volume	25
DOI	wds:Q69345714-BDD3DBC4-1C75-4508-BA1F-63E421512D97
DOI	http://dx.doi.org/10.1203/00006450-198905000-00025
DOI	10.1203/00006450-198905000-00025
Dimensions Publication ID	wds:Q69345714-E8BD4358-291E-4B80-9D2E-08E70D85BDFF
Dimensions Publication ID	1052018164
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q69345714
is cites work of	Localization of PTP-1B, SHP-2, and Src exclusively in rat brain mitochondria and functional consequences. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees Clinical heterogeneity in respiratory chain complex III deficiency in childhood Combined enzyme defect of mitochondrial fatty acid oxidation Multiple presentation of mitochondrial disorders Skeletal muscle mitochondrial defects in nonspecific neurologic disorders. Monitoring of neuronal loss in the hippocampus of Aβ-injected rat: autophagy, mitophagy, and mitochondrial biogenesis stand against apoptosis. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L Caspase-independent mitochondrial cell death results from loss of respiration, not cytotoxic protein release. Neonatal metabolic myopathies Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain The kidney in mitochondrial cytopathies Neonatal presentations of mitochondrial metabolic disorders Metabolic myopathies Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases Fatal infantile liver failure associated with mitochondrial DNA depletion Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations Increased mitochondrial superoxide generation in neurons from trisomy 16 mice: a model of Down's syndrome MITOCHONDRIAL FUNCTION IN PARKINSON'S DISEASE Functional characterization of novel mutations in the human cytochrome b gene. Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase Involvement of Nrf2 in development of anxiety-like behavior by linking Bcl2 to oxidative phosphorylation: estimation in rat hippocampus, amygdala, and prefrontal cortex. Renal involvement in mitochondrial cytopathies Statistical analysis of mitochondrial pathologies in childhood: identification of deficiencies using principal component analysis. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Metabolic acidosis inhibits pyruvate oxidation in chick liver by decreasing activity of pyruvate dehydrogenase complex Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA. Mechanistic Investigations of the Mitochondrial Complex I Inhibitor Rotenone in the Context of Pharmacological and Safety Evaluation Metabolic adaptation to chronic inhibition of mitochondrial protein synthesis in acute myeloid leukemia cells New insights into the phenotype of FARS2 deficiency. The investigation of mitochondrial respiratory chain disease Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease Lactic acidosis in a newborn with adrenal calcifications.

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