Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

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In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency.

P2860

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P2860

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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Correlation of blood biomarker ...... a disorder of GABA metabolism.

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Correlation of blood biomarker ...... a disorder of GABA metabolism.

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Correlation of blood biomarker ...... a disorder of GABA metabolism.

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Correlation of blood biomarker ...... a disorder of GABA metabolism.

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Correlation of blood biomarker ...... a disorder of GABA metabolism.

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Correlation of blood biomarker ...... a disorder of GABA metabolism.

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Correlation of blood biomarker ...... a disorder of GABA metabolism.

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E E Jansen

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G S Salomons

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J-B Roullet

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K M Gibson

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K R Vogel

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P L Pearl

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P2860

Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies

Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric

Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

GABAB-ergic motor cortex dysfunction in SSADH deficiency

Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).

Magnetic resonance spectroscopy of neurotransmitters in human brain.

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development

Analysis of cerebrospinal fluid γ-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection.

Neuropathology in succinic semialdehyde dehydrogenase deficiency.

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succinic semialdehyde dehydrogenase deficiency

biomarker

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Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

about

P2860

P2860

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

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