Hypoparathyroidism in mitochondrial trifunctional protein deficiency
- 31 July 1996
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 129 (1) , 159-162
- https://doi.org/10.1016/s0022-3476(96)70206-8
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Parathyroid Disorders and Renal OsteodystrophyPublished by Elsevier ,2005
- 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 proteinBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1994
- Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.Journal of Clinical Investigation, 1994
- Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patientsNature Genetics, 1993
- Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiencyThe Lancet, 1993
- Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridationBiochemical and Biophysical Research Communications, 1992
- Combined enzyme defect of mitochondrial fatty acid oxidation.Journal of Clinical Investigation, 1992
- Endocrine dysfunction in Kearns‐Sayre syndromeClinical Endocrinology, 1992
- Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiencyEuropean Journal of Pediatrics, 1992
- Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiencyThe Journal of Pediatrics, 1991