Literature DB >> 15272469

Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update.

D A Applegarth1, J R Toone.   

Abstract

This article summarizes data and issues covered in the workshop on Glycine Encephalopathy using headings that cover important topics in our present knowledge of this disease.

Entities:  

Mesh：

Year:  2004        PMID： 15272469     DOI： 10.1023/b:boli.0000031222.38328.59

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  17 in total

1.  Prediction of long-term outcome in glycine encephalopathy: a clinical survey.

Authors:  Julia B Hennermann; Jeanne-Marie Berger; Ulrike Grieben; Gunter Scharer; Johan L K Van Hove
Journal:  J Inherit Metab Dis       Date:  2011-10-15       Impact factor: 4.982

2.  Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

Authors:  C Conter; M O Rolland; D Cheillan; V Bonnet; I Maire; R Froissart
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

Review 3.  Seizures and metabolic disease.

Authors:  Phillip L Pearl; Heather D Bennett; Zarir Khademian
Journal:  Curr Neurol Neurosci Rep       Date:  2005-03       Impact factor: 5.081

4.  Glycinergic synapse development, plasticity, and homeostasis in zebrafish.

Authors:  Lisa R Ganser; Julia E Dallman
Journal:  Front Mol Neurosci       Date:  2009-12-23       Impact factor: 5.639

5.  Using whole-exome sequencing to identify inherited causes of autism.

Authors:  Timothy W Yu; Maria H Chahrour; Michael E Coulter; Sarn Jiralerspong; Kazuko Okamura-Ikeda; Bulent Ataman; Klaus Schmitz-Abe; David A Harmin; Mazhar Adli; Athar N Malik; Alissa M D'Gama; Elaine T Lim; Stephan J Sanders; Ganesh H Mochida; Jennifer N Partlow; Christine M Sunu; Jillian M Felie; Jacqueline Rodriguez; Ramzi H Nasir; Janice Ware; Robert M Joseph; R Sean Hill; Benjamin Y Kwan; Muna Al-Saffar; Nahit M Mukaddes; Asif Hashmi; Soher Balkhy; Generoso G Gascon; Fuki M Hisama; Elaine LeClair; Annapurna Poduri; Ozgur Oner; Samira Al-Saad; Sadika A Al-Awadi; Laila Bastaki; Tawfeg Ben-Omran; Ahmad S Teebi; Lihadh Al-Gazali; Valsamma Eapen; Christine R Stevens; Leonard Rappaport; Stacey B Gabriel; Kyriacos Markianos; Matthew W State; Michael E Greenberg; Hisaaki Taniguchi; Nancy E Braverman; Eric M Morrow; Christopher A Walsh
Journal:  Neuron       Date:  2013-01-23       Impact factor: 17.173

6.  Biochemical, Metabolic, and Behavioral Characteristics of Immature Chronic Hyperphenylalanemic Rats.

Authors:  Gerald A Dienel; Nancy F Cruz
Journal:  Neurochem Res       Date:  2015-07-30       Impact factor: 3.996

Review 7.  Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.

Authors:  Mario Mastrangelo
Journal:  Metab Brain Dis       Date:  2020-10-23       Impact factor: 3.584

Review 8.  Neonatal neuroimaging findings in inborn errors of metabolism.

Authors:  Andrea Poretti; Susan I Blaser; Maarten H Lequin; Ali Fatemi; Avner Meoded; Frances J Northington; Eugen Boltshauser; Thierry A G M Huisman
Journal:  J Magn Reson Imaging       Date:  2012-05-07       Impact factor: 4.813

Review 9.  Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases.

Authors:  Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2018-06-04       Impact factor: 4.982

10.  Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level.

Authors:  Raphaëlle Riché; Meijiang Liao; Izabella A Pena; Kit-Yi Leung; Nathalie Lepage; Nicolas DE Greene; Kyriakie Sarafoglou; Lisa A Schimmenti; Pierre Drapeau; Éric Samarut
Journal:  JCI Insight       Date:  2018-11-02
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