Hypoparathyroidism in mitochondrial trifunctional protein deficiency

Journal of Pediatrics

Volumn 129, Issue 1, 1996, Pages 159-162

  Dionisi Vici, C ^a   Garavaglia, B ^a   Burlina, A B ^a   Bertini, E ^a   Saponara, I ^a   Sabetta, G ^a   Taroni, F ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; HUMAN; HYPOPARATHYROIDISM; LIVER FATTY DEGENERATION; MITOCHONDRION; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RETINOPATHY;

EID: 0029847961     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(96)70206-8     Document Type: Article

References (12)

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2. S Jackson R Singh Kler K Bartlett Combined enzyme defect of mitochondrial fatty acid oxidation J Clin Invest 90 1992 1219 1225
3. T Kamijo RJA Wanders JM Saudubray T Aoyama A Komiyama T Hashimoto Mitochondrial trifunctional protein deficiency catalytic heterogeneity of the mutant enzyme in two patients J Clin Invest 93 1994 1740 1747
4. L Ijlst RJA Wanders S Ushikubo T Kamijo T. Hashimoto Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein Biochim Biophys Acta 1215 1994 347 350
5. C Dionisi-Vici AB Burlina E Bertini Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl coenzyme-A dehydrogenase deficiency J Pediatr 118 1991 744 746
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10. D Resnik G Niwayama Parathyroid disorder and renal osteodystrophy D Resnik G Niwayama Diagnosis of bone and joint disorders 1988 : WB Saunders Philadelphia 3102 3114
11. K Kruse W Sheunemann W Baier J Shaub Hypocalcemic myopathy in idiopathic hypoparathyroidism Eur J Pediatr 138 1982 280 282
12. JN Harvey D Barnett Endocrine dysfunction in Kearns-Sayre syndrome Clin Endocrinol 37 1992 97 104