Document Detail

Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
MedLine Citation:
PMID:  8757579     Owner:  NLM     Status:  MEDLINE    
Mitochondrial trifunctional protein deficiency, a recently identified disorder of fatty-acid oxidation, may show characteristic features such as peripheral neuropathy, pigmentary retinopathy, and acute fatty liver degeneration in pregnant women with an affected fetus. We describe a patient with trifunctional protein deficiency whose clinical picture consisted of severe calcium and phosphate abnormalities caused by hypoparathyroidism.
C Dionisi-Vici; B Garavaglia; A B Burlina; E Bertini; I Saponara; G Sabetta; F Taroni
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  129     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1996 Jul 
Date Detail:
Created Date:  1996-12-04     Completed Date:  1996-12-04     Revised Date:  2012-11-16    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  159-62     Citation Subset:  AIM; IM    
Department of Metabolism, Bambino Gesù Hospital Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
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MeSH Terms
Hypocalcemia / blood,  etiology*,  therapy
Hypoparathyroidism / blood,  complications*
Multienzyme Complexes / deficiency*
Phosphates / blood*
Grant Support
Reg. No./Substance:
0/Multienzyme Complexes; 0/Phosphates; 0/mitochondrial fatty acid beta-oxidation trifunctional protein

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