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Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

The Journal of pediatrics, 2010, Vol.156 (1), p.128-134

2010

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Mevalonate kinase deficiency: a survey of 50 patients

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

2011

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Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Annals of neurology, 2006-01, Vol.59 (1), p.121-127

2006

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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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Early neurological phenotype in 4 children with biallelic PRODH mutations

Brain & development (Tokyo. 1979), 2007-10, Vol.29 (9), p.547-552

2007

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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

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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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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Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.28-32

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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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 Ornithine12

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

2007

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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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Portosystemic shunts: An underdiagnosed but treatable cause of neurological and psychiatric disorders

Journal of the neurological sciences, 2012-10, Vol.321 (1), p.58-64

2012

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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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Validation of plasma branched chain amino acids as biomarkers in Huntington disease

Archives of neurology (Chicago), 2011-02, Vol.68 (2), p.265

2011

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Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

Molecular genetics and metabolism, 2005-04, Vol.84 (4), p.305-312

2005

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Clinical and biochemical heterogeneity associated with fumarase deficiency

Human mutation, 2011-09, Vol.32 (9), p.1046-1052

2011

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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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l -Arginine metabolism in dog kidney and isolated nephron segments

Metabolism, clinical and experimental, 2008-01, Vol.57 (1), p.9-23

2008

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Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

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

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

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

Early neurological phenotype in 4 children with biallelic PRODH mutations

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

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

Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome

Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria

Modified glutamine catabolism in macrophages of Ucp2 knock-out mice

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

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

Portosystemic shunts: An underdiagnosed but treatable cause of neurological and psychiatric disorders

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

Validation of plasma branched chain amino acids as biomarkers in Huntington disease

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

Clinical and biochemical heterogeneity associated with fumarase deficiency

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

l -Arginine metabolism in dog kidney and isolated nephron segments

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