Lista de obras -

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene ⬇️

artículo científico publicado el 14 de abril de 2003

3-Methylglutaconic aciduria type I is caused by mutations in AUH

scientific journal article

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

artículo científico publicado en 2016

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

artículo científico publicado en 2011

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

artículo científico publicado en 2011

Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry

artículo científico publicado en 2003

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

artículo científico publicado en 2007

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

artículo científico publicado en 2006

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

artículo científico publicado en 2006

Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase

scientific journal article

Diagnosis and management of glutaric aciduria type I – revised recommendations ⬇️

artículo científico publicado el 23 de marzo de 2011

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

artículo científico publicado en 2010

Effects of insulin on ketogenesis following fasting in lean and obese men.

artículo científico publicado en 2009

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

artículo científico publicado en 2010

Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond

artículo científico publicado en 2010

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

artículo científico publicado en 2004

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency

artículo científico publicado en 2010

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency

artículo científico publicado en 2010

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

artículo científico publicado en 2015

Genetic basis of hyperlysinemia

artículo científico publicado en 2013

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

artículo científico publicado en 2004

Identification of human D lactate dehydrogenase deficiency

scientific article published on 01 April 2019

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

scientific journal article

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

artículo científico publicado en 2013

Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis

artículo científico publicado en 2009

L-serine in disease and development

artículo científico publicado en 2003

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

artículo científico publicado en 2017

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

artículo científico publicado en 2010

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

artículo científico publicado en 2006

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency

artículo científico publicado en 2012

Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival

artículo científico publicado en 2009

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

artículo científico publicado en 2004

Plasma and erythrocyte fatty acid patterns in patients with recurrent depression: a matched case-control study

artículo científico publicado en 2010

Polyunsaturated fatty acid concentration predicts myelin integrity in early-phase psychosis

artículo científico publicado en 2012

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease

artículo científico publicado en 2003

Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: a meta-analysis

artículo científico

Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway

artículo científico publicado en 2011

S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

artículo científico publicado en 2013

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder ⬇️

artículo científico publicado el 1 de noviembre de 2003

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases

artículo científico publicado en 2004

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

artículo científico publicado en 2013

The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease

artículo científico publicado en 2009

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

artículo científico publicado en 2005

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation

artículo científico publicado en 2011

Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.

artículo científico publicado en 2013

Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria

artículo científico publicado en 2004

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

artículo científico publicado en 2004

Lista de obras de

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene ⬇️

3-Methylglutaconic aciduria type I is caused by mutations in AUH

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase

Diagnosis and management of glutaric aciduria type I – revised recommendations ⬇️

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

Effects of insulin on ketogenesis following fasting in lean and obese men.

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

Genetic basis of hyperlysinemia

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

Identification of human D lactate dehydrogenase deficiency

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis

L-serine in disease and development

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency

Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

Plasma and erythrocyte fatty acid patterns in patients with recurrent depression: a matched case-control study

Polyunsaturated fatty acid concentration predicts myelin integrity in early-phase psychosis

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease

Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: a meta-analysis

Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway

S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder ⬇️

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation

Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.

Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update