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Mitochondrial diseases
scientific article published on 01 February 1989
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
review article
1 reference
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Europe PubMed Central
title
Mitochondrial diseases
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
author name string
Zeviani M
series ordinal
1
1 reference
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Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
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2 October 2019
Bonilla E
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
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2 October 2019
DeVivo DC
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
DiMauro S
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
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2 October 2019
publication date
1 February 1989
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
published in
Neurologic Clinics
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
volume
7
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
page(s)
123-156
1 reference
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Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
cites work
Sequence and organization of the human mitochondrial genome
1 reference
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Crossref
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Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study
1 reference
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Crossref
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7 January 2021
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NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin
1 reference
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7 January 2021
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The elucidation of the human mitochondrial genome: a historical perspective
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7 January 2021
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Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome-c-oxidoreductase
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7 January 2021
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Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.
1 reference
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7 January 2021
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Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.
1 reference
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Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
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Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
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Mitochondrial DNA and human evolution
1 reference
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reference URL
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7 January 2021
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Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase
1 reference
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Crossref
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7 January 2021
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Mitochondrial myopathies: defects in mitochondrial metabolism in human skeletal muscle.
1 reference
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7 January 2021
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Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation
1 reference
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Crossref
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7 January 2021
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The heterogeneity of mitochondrial DNA in different tissues from the same animal
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Crossref
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7 January 2021
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Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis
1 reference
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Crossref
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7 January 2021
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Mitochondrial myopathy: tissue-specific expression of a defect in ubiquinol-cytochrome c reductase
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase
1 reference
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Crossref
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7 January 2021
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Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case
1 reference
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Crossref
reference URL
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7 January 2021
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Mitochondrial myopathies
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Crossref
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7 January 2021
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Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency
1 reference
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https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
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inferred from DOI database lookup
Cytochrome c oxidase deficiency in Leigh syndrome.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
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inferred from DOI database lookup
RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
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Mitochondrial inheritance and disease
1 reference
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7 January 2021
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Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
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Trichopoliodystrophy. I. Report of a case and biochemical studies
1 reference
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Crossref
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7 January 2021
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The mitochondrial electron transport and oxidative phosphorylation system
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
A mitochondrial encephalomyopathy. A combined 31P magnetic resonance and biochemical investigation.
1 reference
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7 January 2021
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A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Mitochondrial myopathy and encephalopathy: three cases--a deficiency of NADH-CoQ dehydrogenase?
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine Transcarbamylase
1 reference
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7 January 2021
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inferred from DOI database lookup
Origin, cellular expression, and cybrid transmission of mitochondrial CAP-R, PYR-IND, and OLI-R mutant phenotypes.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Tissue-specific genes code for polypeptide VIa of bovine liver and heart cytochrome c oxidase
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
On the function of multiple subunits of cytochrome c oxidase from higher eukaryotes
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Lactic Acidosis and Mitochondrial Myopathy Associated with Deficiency of Several Components of Complex III of the Respiratory Chain
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae: multiple trans-acting nuclear genes exert specific effects on expression of each of the cytochrome c oxidase subunits encoded on mitochondrial DNA.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation and properties of cytochrome c oxidase from rat liver and quantification of immunological differences between isozymes from various rat tissues with subunit-specific antisera
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Two siblings with cytochromec oxidase deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical application of DNA analysis in a family with OTC deficiency
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary systemic carnitine deficiency: I. Carnitine biosynthesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Subunit Va of human and bovine cytochrome c oxidase is highly conserved
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Maternally inherited mitochondrial myopathy and myoclonic epilepsy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
How are proteins imported into mitochondria?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A cytochrome-related inherited disorder of the nervous system and muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disorders of the pyruvate dehydrogenase complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathies involving the respiratory chain: a biochemical analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Allelic variation in human mitochondrial genes based on patterns of restriction site polymorphism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Benign reversible muscle cytochrome c oxidase deficiency: a second case
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2818%2930832-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0733-8619(18)30832-6
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
PubMed ID
2646519
1 reference
stated in
Europe PubMed Central
PubMed ID
2646519
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2646519%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 October 2019
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