Lista de obras -

A LC–MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen ⬇️

artículo científico publicado el 6 de julio de 2011

A mitochondrial long-chain fatty acid oxidation defect leads to transfer RNA uncharging and activation of the integrated stress response in the mouse heart

artículo científico publicado en 2022

A pilot resting-state functional connectivity study of the kynurenine pathway in adolescents with depression and healthy controls

artículo científico publicado en 2017

Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods

artículo científico publicado en 2007

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.

artículo científico publicado en 2006

DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo

scientific article published on 11 March 2020

Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1

artículo científico publicado en 2020

Diagnosing mucopolysaccharidosis IVA

artículo científico publicado en 2013

Differential effects of rosiglitazone on skeletal muscle and liver insulin resistance in A-ZIP/F-1 fatless mice

artículo científico publicado en 2003

Effect of weight loss on insulin sensitivity and intramuscular long-chain fatty acyl-CoAs in morbidly obese subjects

artículo científico publicado en 2002

Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure

artículo científico publicado en 2017

Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

artículo científico publicado en 2013

Epimerase-deficiency galactosemia is not a binary condition

artículo científico publicado en 2005

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R ⬇️

artículo científico publicado el 20 de noviembre de 2010

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

scientific article published on 01 June 2019

Human biochemical genetics: an insight into inborn errors of metabolism

artículo científico publicado en 2006

Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex

artículo científico publicado en 2020

Integration of physiological and metabolomic profiles to elucidate the regulatory mechanisms underlying the stimulatory effect of melatonin on astaxanthin and lipids coproduction in Haematococcus pluvialis under inductive stress conditions

scientific article published on 21 September 2020

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).

artículo científico publicado en 2017

Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy

artículo científico publicado en 2002

Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients

artículo científico publicado en 2019

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

artículo científico publicado en 2017

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver

artículo científico publicado en 2015

Lower Preprandial Insulin and Altered Fuel Use in HIV/Antiretroviral-Exposed Infants in Cameroon

artículo científico publicado en 2015

Lower mitochondrial DNA and altered mitochondrial fuel metabolism in hiv-exposed uninfected infants in cameroon

artículo científico publicado en 2017

Mechanism by which fatty acids inhibit insulin activation of insulin receptor substrate-1 (IRS-1)-associated phosphatidylinositol 3-kinase activity in muscle

artículo científico publicado en 2002

Melatonin and calcium act synergistically to enhance the coproduction of astaxanthin and lipids in Haematococcus pluvialis under nitrogen deficiency and high light conditions

artículo científico publicado en 2020

Mild inborn errors of metabolism in commonly used inbred mouse strains

artículo científico publicado en 2019

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

artículo científico publicado en 2009

Overexpression of TROP2 promotes proliferation and invasion of ovarian cancer cells

artículo científico publicado en 2017

Overexpression of uncoupling protein 3 in skeletal muscle protects against fat-induced insulin resistance

artículo científico publicado en 2007

Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4

Phenylbutyrate therapy for maple syrup urine disease ⬇️

artículo científico publicado el 23 de noviembre de 2010

Prenatal Diagnosis of Tay-Sachs Disease

artículo científico publicado en 2019

RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice

artículo científico publicado en 2014

Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse

scientific article published on 17 December 2019

Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry

artículo científico publicado en 2010

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

artículo científico publicado en 2018

The effect of dystocia and previous cesarean uterine scar on the tensile properties of the lower uterine segment

artículo científico publicado en 2006

Urinary Succinylacetone Analysis by Gas Chromatography-Mass Spectrometry (GC-MS).

artículo científico publicado en 2016

[Recommendation for standardized certification of the directors of genetic diagnostics laboratories]

artículo científico publicado en 2019

Lista de obras de

A LC–MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen ⬇️

A mitochondrial long-chain fatty acid oxidation defect leads to transfer RNA uncharging and activation of the integrated stress response in the mouse heart

A pilot resting-state functional connectivity study of the kynurenine pathway in adolescents with depression and healthy controls

Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.

DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo

Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1

Diagnosing mucopolysaccharidosis IVA

Differential effects of rosiglitazone on skeletal muscle and liver insulin resistance in A-ZIP/F-1 fatless mice

Effect of weight loss on insulin sensitivity and intramuscular long-chain fatty acyl-CoAs in morbidly obese subjects

Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure

Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases

Epimerase-deficiency galactosemia is not a binary condition

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R ⬇️

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

Human biochemical genetics: an insight into inborn errors of metabolism

Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex

Integration of physiological and metabolomic profiles to elucidate the regulatory mechanisms underlying the stimulatory effect of melatonin on astaxanthin and lipids coproduction in Haematococcus pluvialis under inductive stress conditions

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).

Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy

Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver

Lower Preprandial Insulin and Altered Fuel Use in HIV/Antiretroviral-Exposed Infants in Cameroon

Lower mitochondrial DNA and altered mitochondrial fuel metabolism in hiv-exposed uninfected infants in cameroon

Mechanism by which fatty acids inhibit insulin activation of insulin receptor substrate-1 (IRS-1)-associated phosphatidylinositol 3-kinase activity in muscle

Melatonin and calcium act synergistically to enhance the coproduction of astaxanthin and lipids in Haematococcus pluvialis under nitrogen deficiency and high light conditions

Mild inborn errors of metabolism in commonly used inbred mouse strains

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

Overexpression of TROP2 promotes proliferation and invasion of ovarian cancer cells

Overexpression of uncoupling protein 3 in skeletal muscle protects against fat-induced insulin resistance

Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4

Phenylbutyrate therapy for maple syrup urine disease ⬇️

Prenatal Diagnosis of Tay-Sachs Disease

RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice

Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse

Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

The effect of dystocia and previous cesarean uterine scar on the tensile properties of the lower uterine segment

Urinary Succinylacetone Analysis by Gas Chromatography-Mass Spectrometry (GC-MS).

[Recommendation for standardized certification of the directors of genetic diagnostics laboratories]