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American Journal of Medical Genetics, Part A

Volumn 140, Issue 20, 2006, Pages 2248-2250

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation [4]

(5) Morava, Eva a Hamel, Ben a Hol, Frans a Rodenburg, Richard a Smeitink, Jan a

a RADBOUD UNIVERSITY MEDICAL CENTER (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PHENOBARBITAL; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ANEMIA; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHOCARDIOGRAPHY; EPILEPSY; FAMILY HISTORY; GENE; GENE MUTATION; HEART MURMUR; HUMAN; HYPERTHERMIA; HYPOTHYROIDISM; IMAGE ANALYSIS; LETTER; LIVER FAILURE; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; ND1 GENE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESPIRATORY FAILURE; SEIZURE; STUVE WIEDEMANN SYNDROME; SYMPTOM;

ABNORMALITIES, MULTIPLE; BONE AND BONES; HUMANS; MALE; MITOCHONDRIAL DISEASES; MUTATION; NADH DEHYDROGENASE; NETHERLANDS; PEDIGREE; SYNDROME;

EID: 33749465506 PISSN: 15524825 EISSN: 15524833 Source Type: Journal
DOI: 10.1002/ajmg.a.31452 Document Type: Letter

Times cited : (10)

References (7)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.