(Q33793717)

29 July 2017

1 reference

title

Mitochondrial disorders. A diagnostic challenge in clinical chemistry (English)

1 reference

29 July 2017

M F Bauer

1

1 reference

29 July 2017

K Gempel

2

1 reference

29 July 2017

S Hofmann

3

1 reference

29 July 2017

M Jaksch

4

1 reference

29 July 2017

C Philbrook

5

1 reference

29 July 2017

K D Gerbitz

6

1 reference

29 July 2017

publication date

1 September 1999

1 reference

Clinical Chemistry and Laboratory Medicine

29 July 2017

published in

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29 July 2017

volume

37

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29 July 2017

issue

9

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29 July 2017

page(s)

855-876

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

MITOMAP: a human mitochondrial genome database--1998 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Localization of the Wilson's disease protein product to mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Human deafness dystonia syndrome is a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Apoptosis in neurodegenerative diseases: the role of mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondria in organismal aging and degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial DNA sequence variation in human evolution and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Protein import into mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Role of Tim23 as voltage sensor and presequence receptor in protein import into mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

The MIM complex mediates preprotein translocationacross the mitochondrial inner membrane and couples it to the mt-Hsp70/ATP driving system

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Dynamic interaction between Isp45 and mitochondrial hsp70 in the protein import system of the yeast mitochondrial inner membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial protein import: biochemical and genetic evidence for interaction of matrix hsp70 and the inner membrane protein MIM44

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial Hsp70/MIM44 complex facilitates protein import

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Import of carrier proteins into the mitochondrial inner membrane mediated by Tim22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Carrier protein import into mitochondria mediated by the intermembrane proteins Tim10/Mrs11 and Tim12/Mrs5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

The Tim54p-Tim22p complex mediates insertion of proteins into the mitochondrial inner membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Tim9p, an essential partner subunit of Tim10p for the import of mitochondrial carrier proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Genetic and structural characterization of the human mitochondrial inner membrane translocase

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Sequence and organization of the human mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Diseases resulting from mitochondrial DNA point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Oxidants, antioxidants, and the degenerative diseases of aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Maternal inheritance of human mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial DNA mutations in diseases of energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Maternal inheritance and the evaluation of oxidative phosphorylation diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial DNA--all things bad?

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondria and apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Structure at 2.8 A resolution of F1-ATPase from bovine heart mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Structural analysis of ATP synthase from bovine heart mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial metabolite transporters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydratase

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Human Propionyl CoA Carboxylase: Some Properties of the Partially Purified Enzyme in Fibroblasts from Controls and Patients with Propionic Acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondria and dystonia: the movement disorder connection?

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A specific point mutation in the mitochondrial genome of Caucasians with MELAS

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNALeu(UUR) ]

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

The mitochondrial A3243G mutation presenting as severe cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A new point mutation associated with mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial diseases in man and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Gonadal dysfunction in mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Somatic mutations of the mitochondrial genome in human colorectal tumours

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Multi-organ characterization of mitochondrial genomic rearrangements in ad libitum and caloric restricted mice show striking somatic mitochondrial DNA rearrangements with age

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Genetic heterogeneity in Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Pure hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

ATP-dependent proteolysis in mitochondria. m-AAA protease and PIM1 protease exert overlapping substrate specificities and cooperate with the mtHsp70 system

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

An autosomal locus predisposing to deletions of mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Localisation of enzymic defect in propionicacidaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Highly conserved charge-pair networks in the mitochondrial carrier family

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.1999.129

21 January 2018

Identifiers

DOI

10.1515/CCLM.1999.129

1 reference

release_tklsn2g4bnh5jcu3p6dmypk6a4

29 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tklsn2g4bnh5jcu3p6dmypk6a4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference