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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

The New England journal of medicine, 2016-02, Vol.374 (8), p.795-797

2016

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Circulating acylcarnitine profile in human heart failure: a surrogate of fatty acid metabolic dysregulation in mitochondria and beyond

American journal of physiology. Heart and circulatory physiology, 2017-10, Vol.313 (4), p.H768-H781

2017

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Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

Scientific reports, 2019-10, Vol.9 (1), p.14098-10, Article 14098

2019

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Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study

PloS one, 2015-07, Vol.10 (7), p.e0132972-e0132972

2015

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Detection of 28 neurotransmitters and related compounds in biological fluids by liquid chromatography/tandem mass spectrometry

Rapid communications in mass spectrometry, 2006-01, Vol.20 (9), p.1405-1421

2006

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Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening

Clinical chemistry and laboratory medicine, 2012-12, Vol.50 (12), p.2231-2233

2012

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Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency

Muscle & nerve, 2011-03, Vol.43 (3), p.444-446

2011

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The Arginine Deiminase Operon Is Responsible for a Fitness Trade-Off in Extended-Spectrum-β-Lactamase-Producing Strains of Escherichia coli

Antimicrobial agents and chemotherapy, 2019-08, Vol.63 (8), p.1521-1530

2019

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Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis

Journal of clinical rheumatology, 2020-08, Vol.26 (5), p.e125-e127

2020

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The Arginine Deiminase Operon Is Responsible for a Fitness Trade-Off in Extended-Spectrum-␤-Lactamase-Producing Strains of Escherichia coli

Antimicrobial agents and chemotherapy, 2019-08

2019

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Interactions between genotype and environment drive the metabolic phenotype within Escherichia coli isolates

Environmental microbiology, 2016-01, Vol.18 (1), p.100-117

2016

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Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome

Journal of inherited metabolic disease, 2020-05, Vol.43 (3), p.540-548

2020

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Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis

Journal of clinical rheumatology, 2019-02, p.1

2019

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The arginine deiminase operon is responsible for a fitness trade-off in extended-spectrum-beta-lactamase-producing strains of Escherichia coli

Antimicrobial agents and chemotherapy, 2019, Vol.63 (8), p.e00635-19

2019

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Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2011-12, Vol.879 (31), p.3694-3699

2011

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Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome

Sleep medicine, 2017-08, Vol.36, p.184-185

2017

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Interactions between genotype and environment drive the metabolic phenotype within E scherichia coli isolates

Environmental microbiology, 2016-01, Vol.18 (1), p.100-117

2016

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Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

Neuromuscular disorders : NMD, 2010-01, Vol.20 (1), p.44-48

2010

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Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

Neuromuscular disorders : NMD, 2009-05, Vol.19 (5), p.324-329

2009

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Characterization of Insulin Secretion and Resistance in Type 2 Diabetes of Adolescents

The journal of clinical endocrinology and metabolism, 2006-02, Vol.91 (2), p.401-404

2006

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Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

Mitochondrion, 2011-05, Vol.11 (3), p.533-536

2011

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Methylation metabolites in amniotic fluid depend on gestational age

Prenatal diagnosis, 2013-09, Vol.33 (9), p.848-855

2013

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How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B12 absorption?

Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.66-71

2012

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Oral glutamine and amino acid supplementation inhibit whole-body protein degradation in children with Duchenne muscular dystrophy

The American journal of clinical nutrition, 2006-04, Vol.83 (4), p.823-828

2006

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Goitre and iodine deficiency in Afghanistan: a case—control study

British journal of nutrition, 2006-01, Vol.95 (1), p.196-203

2006

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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Circulating acylcarnitine profile in human heart failure: a surrogate of fatty acid metabolic dysregulation in mitochondria and beyond

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study

Detection of 28 neurotransmitters and related compounds in biological fluids by liquid chromatography/tandem mass spectrometry

Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening

Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency

The Arginine Deiminase Operon Is Responsible for a Fitness Trade-Off in Extended-Spectrum-β-Lactamase-Producing Strains of Escherichia coli

Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis

The Arginine Deiminase Operon Is Responsible for a Fitness Trade-Off in Extended-Spectrum-␤-Lactamase-Producing Strains of Escherichia coli

Interactions between genotype and environment drive the metabolic phenotype within Escherichia coli isolates

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome

Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis

The arginine deiminase operon is responsible for a fitness trade-off in extended-spectrum-beta-lactamase-producing strains of Escherichia coli

Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method

Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome

Interactions between genotype and environment drive the metabolic phenotype within E scherichia coli isolates

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

Characterization of Insulin Secretion and Resistance in Type 2 Diabetes of Adolescents

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

Methylation metabolites in amniotic fluid depend on gestational age

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B12 absorption?

Oral glutamine and amino acid supplementation inhibit whole-body protein degradation in children with Duchenne muscular dystrophy

Goitre and iodine deficiency in Afghanistan: a case—control study

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