scholarly article | Q13442814 |
P2093 | author name string | Lev D | |
Gutman A | |||
Zeharia A | |||
Harel S | |||
Lerman-Sagie T | |||
Barash V | |||
Nissenkorn A | |||
Fatal-Valevski A | |||
P2860 | cites work | Protein measurement with the Folin phenol reagent | Q20900776 |
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred | Q24514945 | ||
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations | Q33675684 | ||
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation | Q34152888 | ||
Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy | Q34312609 | ||
A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia | Q34425669 | ||
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy | Q34627393 | ||
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases | Q35196481 | ||
Mitochondrial disorders in pediatrics. Clinical, biochemical, and genetic implications. | Q35942786 | ||
Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts | Q36999056 | ||
Oxidative phosphorylation diseases. Disorders of two genomes | Q37936240 | ||
Methods for study of normal and abnormal skeletal muscle mitochondria | Q39636131 | ||
Mitochondrial mutation associated with nonsyndromic deafness | Q40952071 | ||
Clinical presentations and laboratory investigations in respiratory chain deficiency | Q41088407 | ||
Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes | Q41146469 | ||
Neurological presentations of mitochondrial diseases | Q41180852 | ||
Clinical presentation of mitochondrial disorders in childhood. | Q41180858 | ||
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome | Q41928498 | ||
Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients | Q42485320 | ||
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies | Q43484805 | ||
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies | Q48836050 | ||
Genetic heterogeneity in Leigh syndrome. | Q51025660 | ||
3-Methylglutaconic aciduria: a new variant | Q52231278 | ||
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region | Q57588514 | ||
Mitochondrial Disorders | Q61606240 | ||
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR) | Q61606262 | ||
Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations | Q67927084 | ||
Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain | Q69345714 | ||
Mitochondrial genes and disease | Q70306033 | ||
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts | Q71345292 | ||
Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome | Q72393898 | ||
A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies | Q72412325 | ||
Mitochondrial encephalomyopathies | Q72546384 | ||
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome | Q72632067 | ||
Biochemical and molecular investigations in respiratory chain deficiencies | Q72792351 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 209-214 | |
P577 | publication date | 1999-09-01 | |
P1433 | published in | Archives of Disease in Childhood | Q4787296 |
P1476 | title | Multiple presentation of mitochondrial disorders | |
P478 | volume | 81 |