Literature DB >> 3767321

Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.

B Korf, J K Wallman, H L Levy.   

Abstract

A child was seen because of encephalopathy and metabolic ketoacidosis at 19 months. She was found to have a cobalamin-responsive form of methylmalonic acidemia of the cbl A complementation group. However, after treatment with cyanocobalamin and a protein-restricted diet, with recovery from the encephalopathy, she was found to have a tremor and bilateral dystonic posturing in association with lucencies in the globus pallidi shown by computed tomographic scan.

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Year:  1986        PMID： 3767321     DOI： 10.1002/ana.410200317

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  18 in total

1.  Asymptomatic lesions of the basal ganglia in a patient with methylmalonic aciduria.

Authors:  S Stöckler; I Slavc; F Ebner; R Baumgartner
Journal:  Eur J Pediatr       Date:  1992-12       Impact factor: 3.183

2.  Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.

Authors:  G M Enns; A J Barkovich; D S Rosenblatt; D R Fredrick; K Weisiger; C Ohnstad; S Packman
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Neurocognitive phenotype of isolated methylmalonic acidemia.

Authors:  Colin J O'Shea; Jennifer L Sloan; Edythe A Wiggs; Maryland Pao; Andrea Gropman; Eva H Baker; Irini Manoli; Charles P Venditti; Joseph Snow
Journal:  Pediatrics       Date:  2012-05-21       Impact factor: 7.124

4.  Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.

Authors:  C E Keegan; D M Martin; D J Quint; J L Gorski
Journal:  Eur J Pediatr       Date:  2003-02-07       Impact factor: 3.183

5.  Neurological outcome of methylmalonic acidaemia.

Authors:  P Nicolaides; J Leonard; R Surtees
Journal:  Arch Dis Child       Date:  1998-06       Impact factor: 3.791

6.  Mitochondrial dysfunction in mut methylmalonic acidemia.

Authors:  Randy J Chandler; Patricia M Zerfas; Sara Shanske; Jennifer Sloan; Victoria Hoffmann; Salvatore DiMauro; Charles P Venditti
Journal:  FASEB J       Date:  2008-12-16       Impact factor: 5.191

Review 7.  Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature.

Authors:  Alireza Radmanesh; Talieh Zaman; Hossein Ghanaati; Sanaz Molaei; Richard L Robertson; Amir A Zamani
Journal:  Pediatr Radiol       Date:  2008-07-18

8.  Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study.

Authors:  A Larnaout; M A Mongalgi; N Kaabachi; D Khiari; A Debbabi; A Mebazza; M Ben Hamida; F Hentati
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

9.  The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.

Authors:  Marianna Caterino; Randy J Chandler; Jennifer L Sloan; Kenneth Dorko; Kristina Cusmano-Ozog; Laura Ingenito; Stephen C Strom; Esther Imperlini; Emanuela Scolamiero; Charles P Venditti; Margherita Ruoppolo
Journal:  Mol Biosyst       Date:  2016-02

10.  An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.

Authors:  Rita Christopher; Bindu P Sankaran
Journal:  Ann Indian Acad Neurol       Date:  2008-04       Impact factor: 1.383
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