Literature DB >> 30928149

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Carlos R Ferreira1, Georg F Hoffmann2, Nenad Blau3.   

Abstract

About a third of patients with inherited metabolic diseases with neurologic involvement suffer from a movement disorder, in the form of ataxia, hyperkinetic movements, or hypokinetic-rigid syndrome. We reviewed and updated the list of known metabolic etiologies associated with various types of movement disorders, and found approximately 200 relevant inborn errors of metabolism. This represents the first of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement. Published by Elsevier Inc.

Entities:  

Keywords:  Ataxia; Choreoathetosis; Dystonia; Hypokinetic-rigid syndrome; Inborn errors of metabolism; Inherited metabolic diseases; Movement disorders; Myoclonus; Parkinsonism; Tremor

Mesh:

Year:  2019        PMID: 30928149     DOI: 10.1016/j.ymgme.2019.03.007

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  8 in total

Review 1.  Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.

Authors:  Teodoro Jerves; Nenad Blau; Carlos R Ferreira
Journal:  Mol Genet Metab       Date:  2022-03-28       Impact factor: 4.204

Review 2.  Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Authors:  Carlos R Ferreira; Diego Martinelli; Nenad Blau
Journal:  Mol Genet Metab       Date:  2021-07-21       Impact factor: 4.204

3.  Movement Disorders in Inherited Metabolic Diseases in Children.

Authors:  Arushi Gahlot Saini; Suvasini Sharma
Journal:  Ann Indian Acad Neurol       Date:  2020-05-09       Impact factor: 1.383

Review 4.  A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Authors:  Juan Darío Ortigoza-Escobar
Journal:  Front Neurol       Date:  2020-11-13       Impact factor: 4.003

5.  Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.

Authors:  Lisette H Koens; Inge Tuitert; Hans Blokzijl; Marc Engelen; Femke C C Klouwer; Fiete Lange; Wilhelmina G Leen; Roelineke J Lunsing; Johannes H T M Koelman; Aad Verrips; Tom J de Koning; Marina A J Tijssen
Journal:  J Inherit Metab Dis       Date:  2022-07-11       Impact factor: 4.750

Review 6.  Movement Disorders in Genetic Pediatric Ataxias.

Authors:  Simone Gana; Enza Maria Valente
Journal:  Mov Disord Clin Pract       Date:  2020-04-06

Review 7.  Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.

Authors:  Carlos R Ferreira; Nenad Blau
Journal:  Mol Genet Metab       Date:  2020-12-25       Impact factor: 4.797

Review 8.  Inherited Metabolic Disorders Presenting with Ataxia.

Authors:  Grace Silver; Saadet Mercimek-Andrews
Journal:  Int J Mol Sci       Date:  2020-08-01       Impact factor: 5.923

  8 in total

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