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Progress in understanding 2-hydroxyglutaric acidurias

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.571-587

2012

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Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency

Developmental medicine and child neurology, 2010-07, Vol.52 (7), p.e133-e142

2010

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catabolic block does not sufficiently explain how 2-deoxy-D-glucose inhibits cell growth

Proceedings of the National Academy of Sciences - PNAS, 2008-11, Vol.105 (46), p.17807-17811

2008

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The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response

Antioxidants & redox signaling, 2011-07, Vol.15 (2), p.311-324

2011

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Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress

Journal of biology (London, England), 2007-12, Vol.6 (4), p.10-10, Article 10

2007

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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Brain (London, England : 1878), 2010-07, Vol.133 (7), p.2148-2159

2010

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Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

American journal of human genetics, 2011-10, Vol.89 (4), p.507-515

2011

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IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo

Annals of neurology, 2011-03, Vol.69 (3), p.455-463

2011

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Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.401-410

2013

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Arabidopsis her1 mutant implicates GABA in E-2-hexenal responsiveness

The Plant journal : for cell and molecular biology, 2008-01, Vol.53 (2), p.197-213

2008

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Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

Brain & development (Tokyo. 1979), 2011-10, Vol.33 (9), p.796-805

2011

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Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.997-1004

2013

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Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Molecular genetics and metabolism, 2012-04, Vol.105 (4), p.596-601

2012

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Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

American journal of human genetics, 2005-02, Vol.76 (2), p.358-360

2005

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High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

American journal of human genetics, 2004-07, Vol.75 (1), p.97-105

2004

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Exocytotic release of creatine in rat brain

Synapse (New York, N.Y.), 2006-08, Vol.60 (2), p.118-123

2006

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new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

Journal of inherited metabolic disease, 2010-02, Vol.33 (1), p.85-90

2010

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Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

American journal of human genetics, 2007-05, Vol.80 (5), p.971-981

2007

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Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity

Amino acids, 2010-05, Vol.38 (5), p.1607-1615

2010

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Serum testosterone levels measured by isotope dilution-liquid chromatography-tandem mass spectrometry in postmenopausal women versus those in women who underwent bilateral oophorectomy

Annals of clinical biochemistry, 2010-05, Vol.47 (Pt 3), p.248-252

2010

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Unusual variants of Alexander's disease

Annals of neurology, 2005-03, Vol.57 (3), p.327-338

2005

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Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC–MS/MS: application to two new inherited defects of metabolism

Journal of chromatography. B, 2005-08, Vol.823 (1), p.18-25

2005

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Circulating oxidized LDL: determinants and association with brachial flow-mediated dilation

Journal of lipid research, 2009-02, Vol.50 (2), p.342-349

2009

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Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

Human mutation, 2007-09, Vol.28 (9), p.890-896

2007

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Laboratory diagnosis of defects of creatine biosynthesis and transport

Clinica chimica acta, 2005-11, Vol.361 (1), p.1-9

2005

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Progress in understanding 2-hydroxyglutaric acidurias

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency

catabolic block does not sufficiently explain how 2-deoxy-D-glucose inhibits cell growth

The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response

Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo

Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

Arabidopsis her1 mutant implicates GABA in E-2-hexenal responsiveness

Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Exocytotic release of creatine in rat brain

new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity

Serum testosterone levels measured by isotope dilution-liquid chromatography-tandem mass spectrometry in postmenopausal women versus those in women who underwent bilateral oophorectomy

Unusual variants of Alexander's disease

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC–MS/MS: application to two new inherited defects of metabolism

Circulating oxidized LDL: determinants and association with brachial flow-mediated dilation

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

Laboratory diagnosis of defects of creatine biosynthesis and transport

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