Literature DB >> 8757579

Hypoparathyroidism in mitochondrial trifunctional protein deficiency.

C Dionisi-Vici1, B Garavaglia, A B Burlina, E Bertini, I Saponara, G Sabetta, F Taroni.   

Abstract

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.

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Year:  1996        PMID： 8757579     DOI： 10.1016/s0022-3476(96)70206-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

Review 1.  Genetics of endocrine and metabolic disorders: parathyroid.

Authors:  R V Thakker
Journal:  Rev Endocr Metab Disord       Date:  2004-03       Impact factor: 6.514

Review 2.  Genetic Disorders of Parathyroid Development and Function.

Authors:  Rebecca J Gordon; Michael A Levine
Journal:  Endocrinol Metab Clin North Am       Date:  2018-10-12       Impact factor: 4.741

3.  Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

Authors:  J A Ibdah; I Tein; C Dionisi-Vici; M J Bennett; L IJlst; B Gibson; R J Wanders; A W Strauss
Journal:  J Clin Invest       Date:  1998-09-15       Impact factor: 14.808

Review 4.  Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

Authors:  R J Wanders; P Vreken; M E den Boer; F A Wijburg; A H van Gennip; L IJlst
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

5.  Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.

Authors:  Peter van Vliet; Annelies E Berden; Mojca K M van Schie; Jaap A Bakker; Christian Heringhaus; Irenaeus F M de Coo; Mirjam Langeveld; Marielle A Schroijen; M Sesmu Arbous
Journal:  JIMD Rep       Date:  2017-07-07

6.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.

Authors:  J A Ibdah; M J Dasouki; A W Strauss
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

7.  Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.

Authors:  François Labarthe; Jean François Benoist; Michèle Brivet; Christine Vianey-Saban; François Despert; Hélène Ogier de Baulny
Journal:  Eur J Pediatr       Date:  2006-03-08       Impact factor: 3.183

8.  A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.

Authors:  Young Bin Hong; Ja Hyun Lee; Jin-Mo Park; Yu-Ri Choi; Young Se Hyun; Bo Ram Yoon; Jeong Hyun Yoo; Heasoo Koo; Sung-Chul Jung; Ki Wha Chung; Byung-Ok Choi
Journal:  BMC Med Genet       Date:  2013-12-05       Impact factor: 2.103

Review 9.  Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.

Authors:  Suzan J G Knottnerus; Jeannette C Bleeker; Rob C I Wüst; Sacha Ferdinandusse; Lodewijk IJlst; Frits A Wijburg; Ronald J A Wanders; Gepke Visser; Riekelt H Houtkooper
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

Review 10.  Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus.

Authors:  Aliya A Khan; Christian A Koch; Stan Van Uum; Jean Patrice Baillargeon; Jens Bollerslev; Maria Luisa Brandi; Claudio Marcocci; Lars Rejnmark; Rene Rizzoli; M Zakarea Shrayyef; Rajesh Thakker; Bulent O Yildiz; Bart Clarke
Journal:  Eur J Endocrinol       Date:  2019-03       Impact factor: 6.664
  10 in total

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