Literature DB >> 2797456

Adult-onset chorea and dementia with propionic acidemia.

K D Sethi1, R Ray, R A Roesel, A L Carter, B B Gallagher, D W Loring, F A Hommes.   

Abstract

Propionic acidemia usually presents in the newborn period with severe metabolic acidosis and lethargy. A 31-year-old man with adult onset chorea and dementia had propionic acidemia due to propionyl CoA carboxylase deficiency. Metabolic investigations may prove useful in patients with movement disorder of unknown etiology.

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Year:  1989        PMID： 2797456     DOI： 10.1212/wnl.39.10.1343

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  16 in total

Review 1.  Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism.

Authors:  Michel Tchan
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

Review 2.  Differential diagnosis of chorea.

Authors:  Ruth H Walker
Journal:  Curr Neurol Neurosci Rep       Date:  2011-08       Impact factor: 5.081

3.  Unusual presentation of propionic acidaemia as isolated cardiomyopathy.

Authors:  T M Lee; L J Addonizio; B A Barshop; W K Chung
Journal:  J Inherit Metab Dis       Date:  2009-02-24       Impact factor: 4.982

4.  Autism spectrum disorders in propionic acidemia patients.

Authors:  Caroline Dejean de la Bâtie; Valérie Barbier; Célina Roda; Anaïs Brassier; Jean-Baptiste Arnoux; Vassili Valayannopoulos; Anne-Sophie Guemann; Clément Pontoizeau; Stéphanie Gobin; Florence Habarou; Florence Lacaille; Jean-Paul Bonnefont; Pierre Canouï; Chris Ottolenghi; Pascale De Lonlay; Lisa Ouss
Journal:  J Inherit Metab Dis       Date:  2017-08-30       Impact factor: 4.982

Review 5.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

Review 6.  Physiology and pathophysiology of organic acids in cerebrospinal fluid.

Authors:  G F Hoffmann; W Meier-Augenstein; S Stöckler; R Surtees; D Rating; W L Nyhan
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

7.  Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples.

Authors:  T Kuhara; M Ohse; Y Inoue; T Yorifuji; N Sakura; H Mitsubuchi; F Endo; J Ishimatu
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982

Review 8.  Diagnosis of inherited metabolic disorders affecting the nervous system.

Authors:  P D Swanson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-11       Impact factor: 10.154

Review 9.  Neurological manifestations of organic acid disorders.

Authors:  G F Hoffmann; K M Gibson; F K Trefz; W L Nyhan; H J Bremer; D Rating
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

10.  Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Authors:  Patrick Forny; Friederike Hörster; Diana Ballhausen; Anupam Chakrapani; Kimberly A Chapman; Carlo Dionisi-Vici; Marjorie Dixon; Sarah C Grünert; Stephanie Grunewald; Goknur Haliloglu; Michel Hochuli; Tomas Honzik; Daniela Karall; Diego Martinelli; Femke Molema; Jörn Oliver Sass; Sabine Scholl-Bürgi; Galit Tal; Monique Williams; Martina Huemer; Matthias R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2021-03-09       Impact factor: 4.750
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