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Mevalonate kinase deficiency: a survey of 50 patients

Pediatrics (Evanston), 2011-07, Vol.128 (1), p.e152-e159

2011

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Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression

PloS one, 2007-07, Vol.2 (7), p.e647-e647

2007

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Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

Circulation (New York, N.Y.), 1999-11, Vol.100 (22), p.2248-2253

1999

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An Analysis of the Association between Serum Citrulline and Acute Rejection among 26 Recipients of Intestinal Transplant

American journal of transplantation, 2004-07, Vol.4 (7), p.1124-1132

2004

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A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

Orphanet journal of rare diseases, 2010-10, Vol.5 (1), p.26-26, Article 26

2010

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The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients

Pediatrics (Evanston), 1997-04, Vol.99 (4), p.567-574

1997

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Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

Pediatric research, 2011-12, Vol.70 (6), p.638-641

2011

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Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.148-148, Article 148

2013

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Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria

The New England journal of medicine, 2007-06, Vol.356 (26), p.2700-2703

2007

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Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

Human molecular genetics, 2005-11, Vol.14 (21), p.3263-3269

2005

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Biomarkers Identified in Inborn Errors for Lysine, Arginine, and Ornithine

The Journal of nutrition, 2007-06, Vol.137 (6S), p.1669S-1672S

2007

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Modified glutamine catabolism in macrophages of Ucp2 knock-out mice

Biochimica et biophysica acta, 2008, Vol.1777 (1), p.48-54

2008

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Biomarkers Identified in Inborn Errors for Lysine, Arginine, and Ornithine1,2

The Journal of nutrition, 2007-06, Vol.137 (6S), p.1669S

2007

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Biomarkers Identified in Inborn Errors for Lysine, Arginine, and Ornithine12

The Journal of nutrition, 2007-06, Vol.137 (6), p.1669S-1672S

2007

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Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1057-1060

2010

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Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency

Biochimica et biophysica acta, 2010-11, Vol.1802 (11), p.1028-1035

2010

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Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington disease

European journal of human genetics : EJHG, 2010-05, Vol.18 (9), p.1057-60

2010

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Respiratory Chain Defects May Present Only with Hypoglycemia

The journal of clinical endocrinology and metabolism, 2005-06, Vol.90 (6), p.3780-3785

2005

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Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep

Sleep (New York, N.Y.), 2005-04, Vol.28 (4), p.418-424

2005

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Kinetic modeling of plasma leucine levels during continuous venovenous extracorporeal removal therapy in neonates with maple syrup urine disease

Pediatric research, 2005-08, Vol.58 (2), p.278-282

2005

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A novel mutation of the ACADM gene associated with the common c.985AG mutation on the other ACADM allele causes mild MCAD deficiency: a case report

Orphanet journal of rare diseases, 2010-10, Vol.5, p.26

2010

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A novel mutation of the ACADM gene

Orphanet journal of rare diseases, 2010-10, Vol.5, p.26

2010

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Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients

Pediatric research, 2001-09, Vol.50 (3), p.353-357

2001

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Allogeneic Bone Marrow Transplantation in Mevalonic AciduriaBrief Report

The New England journal of medicine, 2007-06, Vol.356 (26), p.2700

2007

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Mevalonate kinase deficiency: a survey of 50 patients

Serum 2-Hydroxyglutarate Production in IDH1- and IDH2-Mutated De Novo Acute Myeloid Leukemia: A Study by the Acute Leukemia French Association Group

Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

An Analysis of the Association between Serum Citrulline and Acute Rejection among 26 Recipients of Intestinal Transplant

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients

Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria

Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

Biomarkers Identified in Inborn Errors for Lysine, Arginine, and Ornithine

Modified glutamine catabolism in macrophages of Ucp2 knock-out mice

Biomarkers Identified in Inborn Errors for Lysine, Arginine, and Ornithine1,2

Biomarkers Identified in Inborn Errors for Lysine, Arginine, and Ornithine12

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington disease

Respiratory Chain Defects May Present Only with Hypoglycemia

Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep

Kinetic modeling of plasma leucine levels during continuous venovenous extracorporeal removal therapy in neonates with maple syrup urine disease

A novel mutation of the ACADM gene associated with the common c.985AG mutation on the other ACADM allele causes mild MCAD deficiency: a case report

A novel mutation of the ACADM gene

Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients

Allogeneic Bone Marrow Transplantation in Mevalonic AciduriaBrief Report

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