Literature DB >> 30838298

Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke.

Diane Demailly1,2, Christine Vianey-Saban3, Cécile Acquaviva3, Victoria Gonzalez1,2, Isabel De Antonio Rubio1,2, Fabienne Cyprien1,2, Thomas Roujeau1, Adria Masoliver1, Nicolas Leboucq4, Philippe Coubes1,2, Laura Cif1,2.   

Abstract

Entities:  

Keywords:  Asymmetric striatal lesions; Atypical, Glutaric aciduria type I; Hemidystonia; Metabolic

Year:  2018        PMID： 30838298      PMCID： PMC6336155          DOI： 10.1002/mdc3.12633

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  10 in total

1.  Hemidystonia improved by baclofen and PET scan findings in a patient with glutaric aciduria type I.

Authors:  Y Awaad; H Shamato; H Chugani
Journal:  J Child Neurol       Date:  1996-03       Impact factor: 1.987

Review 2.  Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Authors:  Nikolas Boy; Chris Mühlhausen; Esther M Maier; Jana Heringer; Birgit Assmann; Peter Burgard; Marjorie Dixon; Sandra Fleissner; Cheryl R Greenberg; Inga Harting; Georg F Hoffmann; Daniela Karall; David M Koeller; Michael B Krawinkel; Jürgen G Okun; Thomas Opladen; Roland Posset; Katja Sahm; Johannes Zschocke; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

3.  Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

Authors:  E Christensen; A Ribes; B Merinero; J Zschocke
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

4.  Glutaric aciduria type 1: neuroimaging features with clinical correlation.

Authors:  Shaimaa Abdelsattar Mohammad; Heba Salah Abdelkhalek; Khaled A Ahmed; Osama K Zaki
Journal:  Pediatr Radiol       Date:  2015-06-26

5.  Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Authors:  C Busquets; B Merinero; E Christensen; J L Gelpí; J Campistol; M Pineda; E Fernández-Alvarez; J M Prats; A Sans; R Arteaga; M Martí; J Campos; M Martínez-Pardo; A Martínez-Bermejo; M L Ruiz-Falcó; J Vaquerizo; M Orozco; M Ugarte; M J Coll; A Ribes
Journal:  Pediatr Res       Date:  2000-09       Impact factor: 3.756

6.  Mutation analysis in glutaric aciduria type I.

Authors:  J Zschocke; E Quak; P Guldberg; G F Hoffmann
Journal:  J Med Genet       Date:  2000-03       Impact factor: 6.318

7.  Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I.

Authors:  I Baric; L Wagner; P Feyh; M Liesert; W Buckel; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

Review 8.  Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

Authors:  S I Goodman; D E Stein; S Schlesinger; E Christensen; M Schwartz; C R Greenberg; O N Elpeleg
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

9.  Type I glutaric aciduria, part 2: a model of acute striatal necrosis.

Authors:  Kevin A Strauss; D Holmes Morton
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

10.  [Type 1 glutaric aciduria: clinical and therapeutic implications].

Authors:  P E Jiménez Caballero; C Marsal Alonso
Journal:  Neurologia       Date:  2007-06       Impact factor: 3.109
  10 in total
  1 in total

1.  Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.

Authors:  Parag M Tamhankar; Lakshmi Vasudevan; Pratima Kondurkar; Sarfaraj Niazi; Rita Christopher; Dhaval Solanki; Pooja Dholakia; Mamta Muranjan; Mahesh Kamate; Umesh Kalane; Jayesh Sheth; Vasundhara Tamhankar; Reena Gulati; Madhavi Vasikarla; Sumita Danda; Shaik M Naushad; Katta M Girisha; Shekhar Patil
Journal:  J Pediatr Genet       Date:  2020-09-02
  1 in total

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