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Novel insights into L-2-hydroxyglutaric aciduria: Mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.690-693

2007

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Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency ( Aldh5a1 −/− mice)

Neurochemistry international, 2007-03, Vol.50 (4), p.653-659

2007

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

Journal of inherited metabolic disease, 2007-06, Vol.30 (3), p.279-294

2007

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IL6 is associated with response to dasatinib and cetuximab: Phase II clinical trial with mechanistic correlatives in cetuximab-resistant head and neck cancer

Oral oncology, 2017-06, Vol.69, p.38-45

2017

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Phase II randomized trial of radiation therapy, cetuximab, and pemetrexed with or without bevacizumab in patients with locally advanced head and neck cancer

Annals of oncology, 2016-08, Vol.27 (8), p.1594-1600

2016

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Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.23-28

2007

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Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency

Neurobiology of disease, 2004-08, Vol.16 (3), p.556-562

2004

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Measurement of d-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from d-2-hydroxyglutaric aciduria patients

Journal of inherited metabolic disease, 2009-04, Vol.32 (2), p.264-268

2009

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Abrogation of p53-induced apoptosis by the hepatitis B virus X gene

Cancer research (Chicago, Ill.), 1995-12, Vol.55 (24), p.6012-6016

1995

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Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase

Journal of neurochemistry, 2002-04, Vol.81 (1), p.71-79

2002

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Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency

Clinical neurophysiology, 2004-06, Vol.115 (6), p.1417-1422

2004

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Clinical and biochemical phenotype in 11 patients with mevalonic aciduria

Pediatrics (Evanston), 1993-05, Vol.91 (5), p.915-921

1993

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Gamma‐hydroxybutyric aciduria: A biochemist's education from a heritable disorder of GABA metabolism

Journal of inherited metabolic disease, 2005-01, Vol.28 (3), p.247-265

Gibson, K. M.

2005

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4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism

Neuropediatrics, 1998-02, Vol.29 (1), p.14-22

1998

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Inherited disorders of GABA metabolism

Journal of inherited metabolic disease, 1993-07, Vol.16 (4), p.704-715

1993

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Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography–tandem mass spectrometry: Application to SSADH deficiency

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.913-920

2005

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Interaction of p53 with the human Rad51 protein

Nucleic acids research, 1997-10, Vol.25 (19), p.3868-3874

1997

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Succinyl‐CoA:3‐ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation

Journal of inherited metabolic disease, 2004-01, Vol.27 (5), p.691-692

2004

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Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Human molecular genetics, 1999-08, Vol.8 (8), p.1523-1528

1999

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Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

Journal of inherited metabolic disease, 2009-12, Vol.32 (6), p.713-719

2009

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Lipid abnormalities in succinate semialdehyde dehydrogenase ( Aldh5a1 − /− ) deficient mouse brain provide additional evidence for myelin alterations

Biochimica et biophysica acta, 2007-05, Vol.1772 (5), p.556-562

2007

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Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype

IUBMB life, 2005-09, Vol.57 (9), p.639-644

2005

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Cetuximab-induced aseptic meningitis

Annals of oncology, 2009-09, Vol.20 (9), p.1609-1610

2009

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3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

The Journal of pediatrics, 1998-03, Vol.132 (3), p.519-523

1998

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Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation

Clinical genetics, 2006-03, Vol.69 (3), p.294-296

2006

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Novel insights into L-2-hydroxyglutaric aciduria: Mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency ( Aldh5a1 −/− mice)

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

IL6 is associated with response to dasatinib and cetuximab: Phase II clinical trial with mechanistic correlatives in cetuximab-resistant head and neck cancer

Phase II randomized trial of radiation therapy, cetuximab, and pemetrexed with or without bevacizumab in patients with locally advanced head and neck cancer

Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency

Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency

Measurement of d-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from d-2-hydroxyglutaric aciduria patients

Abrogation of p53-induced apoptosis by the hepatitis B virus X gene

Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase

Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria

Gamma‐hydroxybutyric aciduria: A biochemist's education from a heritable disorder of GABA metabolism

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism

Inherited disorders of GABA metabolism

Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography–tandem mass spectrometry: Application to SSADH deficiency

Interaction of p53 with the human Rad51 protein

Succinyl‐CoA:3‐ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

Lipid abnormalities in succinate semialdehyde dehydrogenase ( Aldh5a1 − /− ) deficient mouse brain provide additional evidence for myelin alterations

Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype

Cetuximab-induced aseptic meningitis

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation

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