Mitochondrial tubulopathy: The many faces of mitochondrial disorders

Pediatric Nephrology

Volumn 16, Issue 9, 2001, Pages 710-712

  Lee, Y S ^a,a   Yap, H K ^a   Barshop, B A ^a   Rajalingam, S ^a   Loke, K Y ^a  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

Hypoparathyroidism; Mitochondrial disorder; Proximal renal tubular dysfunction

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; HUMAN; HYPOCALCEMIA; HYPOMAGNESEMIA; KIDNEY BIOPSY; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE DISORDER; MALE; MUSCLE BIOPSY; MUSCLE SPASM; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE;

CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; HUMANS; KIDNEY DISEASES; KIDNEY TUBULES, PROXIMAL; MITOCHONDRIAL DISEASES; MUTATION;

EID: 0034876449     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670100637     Document Type: Article

References (10)

1. Clinical presentation of mitochondrial disorders in childhood
2. Mitochondrial disorders and the kidney
3. Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion
4. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia
5. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain
6. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome
7. Spectrum of mitochondrial DNA deletions in the Pearson marrow-pancreas syndrome
8. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
9. Mitochondrial DNA defects: A widening clinical spectrum of disorders
10. Pearson marrow pancreas syndrome: A molecular study and clinical management