Literature DB >> 563996

The neuropathology of the nonketotic and ketotic hyperglycinemias: three cases.

R M Shuman, R W Leech, C R Scott.   

Abstract

Abnormal dysmyelination constitutes a pathoanatomic basis for the mental retardation in two different aminoacidopathies, nonketotic hyperglycinemia and ketotic hyperglycinemia. In both conditions myelin is decreased in amount and vacuolated. Similar patterns of dysmyelination in different aminoacidopathies suggest that abnormal myelination results from inadequate synthesis of myelin proteins.

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Year:  1978        PMID： 563996     DOI： 10.1212/wnl.28.2.139

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


  16 in total

1.  Sonographic and pathological features of callosal hypoplasia in non-ketotic hyperglycinaemia.

Authors:  U K Wariyar; R J Welch; D W Milligan; R H Perry
Journal:  Arch Dis Child       Date:  1990-07       Impact factor: 3.791

2.  Sequential MR imaging changes in nonketotic hyperglycinemia.

Authors:  J Mourmans; C B L M Majoie; P G Barth; M Duran; E M Akkerman; B T Poll-The
Journal:  AJNR Am J Neuroradiol       Date:  2006-01       Impact factor: 3.825

3.  Neuropathology of Rett syndrome.

Authors:  K Jellinger; D Armstrong; H Y Zoghbi; A K Percy
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088

Review 4.  Non-ketotic hyperglycinaemia: clinical and biochemical aspects.

Authors:  K Tada; K Hayasaka
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

5.  Amino acidaemias and brain maturation: interference with sulphate activation and myelin metabolism.

Authors:  F A Hommes
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

6.  The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.

Authors:  H Koyata; K Hiraga
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

7.  Selective death of immature neurons in methylmalonic acidemia of the neonate: a case report.

Authors:  J M Sum; J L Twiss; D S Horoupian
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

8.  Intracerebral Glycine Administration Impairs Energy and Redox Homeostasis and Induces Glial Reactivity in Cerebral Cortex of Newborn Rats.

Authors:  Alana Pimentel Moura; Belisa Parmeggiani; Mateus Grings; Leonardo de Moura Alvorcem; Rafael Mello Boldrini; Anna Paula Bumbel; Marcela Moreira Motta; Bianca Seminotti; Moacir Wajner; Guilhian Leipnitz
Journal:  Mol Neurobiol       Date:  2015-10-26       Impact factor: 5.590

9.  Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase.

Authors:  Sangam Kanekar; Debra Byler
Journal:  Metab Brain Dis       Date:  2013-05-29       Impact factor: 3.584

10.  Fetal encephalopathy with cerebral calcifications: a case report.

Authors:  G Sabatino; S Domizio; A Verrotti; L A Ramenghi; P Pelliccia; G Morgese
Journal:  Childs Nerv Syst       Date:  1994-04       Impact factor: 1.475
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