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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.459-466

2015

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Protein disulfide bond determination by mass spectrometry

Mass spectrometry reviews, 2002-05, Vol.21 (3), p.183-216

2002

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Mouse models for methylmalonic aciduria

PloS one, 2012-07, Vol.7 (7), p.e40609-e40609

2012

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Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

Proceedings of the National Academy of Sciences - PNAS, 2012-04, Vol.109 (16), p.6165-6170

2012

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Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus

PloS one, 2012-09, Vol.7 (9), p.e44974-e44974

2012

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Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model

Biochemical and biophysical research communications, 2012-10, Vol.427 (1), p.30-35

2012

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Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

Journal of Pediatric Endocrinology and Metabolism, 2018-03, Vol.31 (4), p.451-459

2018

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Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1115-1127

2018

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Screening for cerebrotendinous xanthomatosis

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.369-369

2015

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Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects

Clinical chemistry (Baltimore, Md.), 1998-07, Vol.44 (7), p.1497-1503

1998

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Newborn screening for guanidinoacetate methyl transferase deficiency

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.303-304

2014

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Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (Ndufs4) Gene

The Journal of biological chemistry, 2012-06, Vol.287 (24), p.20652-20663

2012

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Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment

Developmental medicine and child neurology, 2014-05, Vol.56 (5), p.498-502

2014

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4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3

JIMD Reports, Volume 15, 2015-01, Vol.15, p.1-6

2015

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High-throughput urine screening for Smith–Lemli–Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry

Clinica chimica acta, 2007-05, Vol.380 (1), p.81-88

Pitt, James J.

2007

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Early diagnosis of adenylosuccinate lyase deficiency using a high‐throughput screening method and a trial of oral S‐adenosyl‐l‐methionine as a treatment method

Developmental medicine and child neurology, 2013-11, Vol.55 (11), p.1060-1064

2013

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Comprehensive Screening of Urine Samples for Inborn Errors of Metabolism by Electrospray Tandem Mass Spectrometry

Clinical chemistry (Baltimore, Md.), 2002-11, Vol.48 (11), p.1970-1980

2002

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2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

Clinical chemistry (Baltimore, Md.), 2005-03, Vol.51 (3), p.610-617

2005

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A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Molecular genetics and metabolism, 2006-12, Vol.89 (4), p.332-338

2006

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Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease

American journal of obstetrics and gynecology, 2002-07, Vol.187 (1), p.225-226

2002

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Fasting medium chain acyl-coenzyme a dehydrogenase-deficient children can make ketones

Metabolism, clinical and experimental, 2001-02, Vol.50 (2), p.161-165

2001

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Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

The New England journal of medicine, 1997-10, Vol.337 (17), p.1203-1207

1997

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Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry of Sialylated Glycopeptides and Proteins Using 2,6-Dihydroxyacetophenone as a Matrix

Rapid communications in mass spectrometry, 1996, Vol.10 (14), p.1786-1788

1996

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Newborn Screening

Clinical biochemist reviews, 2010-05, Vol.31 (2), p.57-68

Pitt, James J

2010

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Determination of the Disulfide Bond Arrangement of Newcastle Disease Virus Hemagglutinin Neuraminidase

The Journal of biological chemistry, 2000-03, Vol.275 (9), p.6469-6478

2000

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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

Protein disulfide bond determination by mass spectrometry

Mouse models for methylmalonic aciduria

Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus

Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Screening for cerebrotendinous xanthomatosis

Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects

Newborn screening for guanidinoacetate methyl transferase deficiency

Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (Ndufs4) Gene

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment

4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3

High-throughput urine screening for Smith–Lemli–Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry

Early diagnosis of adenylosuccinate lyase deficiency using a high‐throughput screening method and a trial of oral S‐adenosyl‐l‐methionine as a treatment method

Comprehensive Screening of Urine Samples for Inborn Errors of Metabolism by Electrospray Tandem Mass Spectrometry

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease

Fasting medium chain acyl-coenzyme a dehydrogenase-deficient children can make ketones

Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry of Sialylated Glycopeptides and Proteins Using 2,6-Dihydroxyacetophenone as a Matrix

Newborn Screening

Determination of the Disulfide Bond Arrangement of Newcastle Disease Virus Hemagglutinin Neuraminidase

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