gldc gene Latest Research Papers

New Pathogenic Mutations on GLDC gene leading to Classic Nonketotic Hyperglycinemia

Pediatric Oncall ◽

10.7199/ped.oncall.2021.50 ◽

2021 ◽

Vol 18 (4) ◽

Author(s):

Teresa Almeida ◽

Isabel Tavares Almeida ◽

Andreia Forno ◽

Luis Rodrigues ◽

Rita Jotta ◽

...

Keyword(s):

Pathogenic Mutations ◽

Gldc Gene ◽

Nonketotic Hyperglycinemia

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Partial Pharmacological “Rescue” and MRS spectroscopy in Two Carriers of a Rare Marker Chromosome Containing Extra Copies of the GLDC Gene Encoding a Glycine-Degrading Enzyme Implicate NMDA Receptor Hypofunction in Psychosis

Biological Psychiatry ◽

10.1016/j.biopsych.2020.02.272 ◽

2020 ◽

Vol 87 (9) ◽

pp. S98-S99

Author(s):

Deborah Levy ◽

Charity Morgan ◽

J. Alexander Bodkin ◽

Michael Coleman ◽

Laura Godfrey ◽

...

Keyword(s):

Nmda Receptor ◽

Marker Chromosome ◽

Gene Encoding ◽

Degrading Enzyme ◽

Gldc Gene

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Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

Stem Cell Research ◽

10.1016/j.scr.2019.101503 ◽

2019 ◽

Vol 39 ◽

pp. 101503 ◽

Cited By ~ 1

Author(s):

Laura Arribas-Carreira ◽

Irene Bravo-Alonso ◽

Arístides López-Márquez ◽

Esmeralda Alonso-Barroso ◽

Álvaro Briso-Montiano ◽

...

Keyword(s):

Ipsc Line ◽

Gldc Gene ◽

Nonketotic Hyperglycinemia ◽

Human Ipsc

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P1.03-17 Functional Mechanism of GLDC Gene Alternative Splicing in Non-Small Cell Lung Cancer

Journal of Thoracic Oncology ◽

10.1016/j.jtho.2018.08.698 ◽

2018 ◽

Vol 13 (10) ◽

pp. S518

Author(s):

Y. Yuan ◽

K. Ma

Keyword(s):

Lung Cancer ◽

Alternative Splicing ◽

Small Cell Lung Cancer ◽

Cell Lung Cancer ◽

Small Cell ◽

Small Cell Lung ◽

Functional Mechanism ◽

Gldc Gene

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Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

Pediatric Neurology ◽

10.1016/j.pediatrneurol.2017.09.014 ◽

2018 ◽

Vol 79 ◽

pp. e1

Author(s):

Curtis R. Coughlin ◽

Michael A. Swanson ◽

Elaine B. Spector ◽

Kathryn E. Kronquist ◽

Johan L.K. Van Hove

Keyword(s):

Point Mutation ◽

Late Onset ◽

Gldc Gene ◽

Nonketotic Hyperglycinemia

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A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

BMC Medical Genetics ◽

10.1186/s12881-017-0517-1 ◽

2018 ◽

Vol 19 (1) ◽

Cited By ~ 3

Author(s):

Yiming Lin ◽

Zhenzhu Zheng ◽

Wenjia Sun ◽

Qingliu Fu

Keyword(s):

Chinese Family ◽

Compound Heterozygous ◽

Heterozygous Variant ◽

Gldc Gene

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Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase ( GLDC ) gene

Brain and Development ◽

10.1016/j.braindev.2017.03.005 ◽

2017 ◽

Vol 39 (7) ◽

pp. 601-605 ◽

Cited By ~ 3

Author(s):

Waseem Khraim ◽

Bassam Abu-Libdeh ◽

Suhail Ayesh ◽

Imad Dweikat

Keyword(s):

Novel Mutation ◽

Glycine Decarboxylase ◽

Clinical Heterogeneity ◽

Glycine Encephalopathy ◽

Gldc Gene

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Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

Pediatric Neurology ◽

10.1016/j.pediatrneurol.2014.01.018 ◽

2014 ◽

Vol 50 (5) ◽

pp. 536-538 ◽

Cited By ~ 4

Author(s):

J. Nicholas Brenton ◽

Robert S. Rust

Keyword(s):

Point Mutation ◽

Late Onset ◽

Gldc Gene ◽

Nonketotic Hyperglycinemia

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

Metabolic Brain Disease ◽

10.1007/s11011-013-9415-1 ◽

2013 ◽

Vol 28 (4) ◽

pp. 717-720 ◽

Cited By ~ 15

Author(s):

Sangam Kanekar ◽

Debra Byler

Keyword(s):

Glycine Decarboxylase ◽

Mri Findings ◽

Gene Encoding ◽

Gldc Gene ◽

Nonketotic Hyperglycinemia

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Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2011.02.009 ◽

2011 ◽

Vol 103 (2) ◽

pp. 193-196 ◽

Cited By ~ 13

Author(s):

Catherine Brunel-Guitton ◽

Brett Casey ◽

Marion Coulter-Mackie ◽

Hilary Vallance ◽

Deborah Hewes ◽

...

Keyword(s):

Missense Mutation ◽

Late Onset ◽

Homozygous Missense Mutation ◽

Gldc Gene ◽

Nonketotic Hyperglycinemia

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gldc gene
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New Pathogenic Mutations on GLDC gene leading to Classic Nonketotic Hyperglycinemia

Partial Pharmacological “Rescue” and MRS spectroscopy in Two Carriers of a Rare Marker Chromosome Containing Extra Copies of the GLDC Gene Encoding a Glycine-Degrading Enzyme Implicate NMDA Receptor Hypofunction in Psychosis

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

P1.03-17 Functional Mechanism of GLDC Gene Alternative Splicing in Non-Small Cell Lung Cancer

Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase ( GLDC ) gene

Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

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

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

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gldc geneRecently Published Documents

TOTAL DOCUMENTS

H-INDEX

New Pathogenic Mutations on GLDC gene leading to Classic Nonketotic Hyperglycinemia

Partial Pharmacological “Rescue” and MRS spectroscopy in Two Carriers of a Rare Marker Chromosome Containing Extra Copies of the GLDC Gene Encoding a Glycine-Degrading Enzyme Implicate NMDA Receptor Hypofunction in Psychosis

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

P1.03-17 Functional Mechanism of GLDC Gene Alternative Splicing in Non-Small Cell Lung Cancer

Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase ( GLDC ) gene

Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene

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

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

gldc gene
Recently Published Documents