Lista de obras - Giancarlo la Marca - Dominio Público Uruguay

A TRPA1 antagonist reverts oxaliplatin-induced neuropathic pain

artículo científico publicado en 2013

A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

artículo científico publicado en 2014

A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)

scientific article published on 10 August 2020

A pharmacokinetic study and correlation with clinical response of rufinamide in infants with epileptic encephalopathies.

artículo científico publicado en 2013

A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.

artículo científico publicado en 2014

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

artículo científico publicado en 2015

Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients

artículo científico publicado en 2017

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

artículo científico publicado en 2013

Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS

scientific article published on 01 January 2011

Are patients with potential celiac disease really potential? The answer of metabonomics

artículo científico publicado en 2010

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child

artículo científico publicado en 2015

Bone status of children born from mothers with autoimmune diseases treated during pregnancy with prednisone and/or low molecular weight heparin.

artículo científico publicado en 2014

Children who develop type 1 diabetes early in life show low levels of carnitine and amino acids at birth: does this finding shed light on the etiopathogenesis of the disease?

artículo científico publicado en 2013

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

artículo científico publicado en 2016

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

artículo científico publicado en 2011

Conventional and long-circulating liposomes of artemisinin: preparation, characterization, and pharmacokinetic profile in mice

artículo científico publicado en 2010

Data in support for the measurement of heparan sulfate and dermatan sulfate by LC-MS/MS analysis

Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

artículo científico publicado en 2012

Delivery of doxorubicin across the blood-brain barrier by ondansetron pretreatment: a study in vitro and in vivo.

artículo científico publicado en 2014

Detection of doxorubicin hydrochloride accumulation in the rat brain after morphine treatment by mass spectrometry

artículo científico publicado en 2010

Detection of honeybee venom in envenomed tissues by direct MALDI MSI.

artículo científico publicado en 2008

Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry

artículo científico publicado en 2015

Development of a fast LC-MS/MS protocol for combined measurement of six LSDs on dried blood spot in a newborn screening program

artículo científico publicado en 2018

Development of an UPLC-MS/MS method for the determination of antibiotic ertapenem on dried blood spots

artículo científico publicado en 2011

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

artículo científico publicado en 2014

Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry.

artículo científico publicado en 2014

Electrospray ionisation tandem mass spectrometric investigation of phenylpropanoids and secoiridoids from solid olive residue

artículo científico publicado en 2006

Enhanced interpretation of newborn screening results without analyte cutoff values.

artículo científico publicado en 2012

Expanded newborn screening by mass spectrometry: New tests, future perspectives.

artículo científico

Eye drop propranolol administration promotes the recovery of oxygen-induced retinopathy in mice

artículo científico publicado en 2013

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

artículo científico publicado en 2011

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

artículo científico publicado en 2007

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

artículo científico publicado en 2005

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

artículo científico publicado en 2006

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

artículo científico publicado en 2016

Haematohidrosis treated with propranolol: a case report.

artículo científico publicado en 2018

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

artículo científico publicado en 2015

High-performance liquid chromatography/electrospray ionization tandem mass spectrometric investigation of stilbenoids in cell cultures of Vitis vinifera L., cv. Malvasia

article

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

artículo científico publicado en 2005

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

artículo científico publicado en 2009

Hypothermia for neonatal hypoxic-ischemic encephalopathy: may an early amplitude-integrated EEG improve the selection of candidates for cooling?

artículo científico publicado en 2012

Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples

artículo científico publicado en 2006

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias

artículo científico publicado en 2009

LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I

artículo científico publicado en 2011

LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization

artículo científico publicado en 2018

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

artículo científico publicado en 2015

Lactate Rewires Lipid Metabolism and Sustains a Metabolic-Epigenetic Axis in Prostate Cancer

artículo científico publicado en 2022

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

artículo científico publicado en 2018

Lipoic-based TRPA1/TRPV1 antagonist to treat orofacial pain

artículo científico publicado en 2015

Mass spectrometry in clinical chemistry: the case of newborn screening.

artículo científico publicado en 2014

Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry

artículo científico publicado en 2013

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

artículo científico publicado en 2013

N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.

artículo científico publicado en 2009

Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry

artículo científico publicado en 2011

New developments in the treatment of hyperammonemia: emerging use of carglumic acid.

artículo científico publicado en 2011

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry

artículo científico publicado en 2009

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

artículo científico publicado en 2011

Oleuropein aglycone protects against pyroglutamylated-3 amyloid-ß toxicity: biochemical, epigenetic and functional correlates.

artículo científico publicado en 2014

Oleuropein, the Main Polyphenol of Leaf Extract, Has an Anti-Cancer Effect on Human BRAF Melanoma Cells and Potentiates the Cytotoxicity of Current Chemotherapies

artículo científico publicado en 2018

Oral propranolol for retinopathy of prematurity: risks, safety concerns, and perspectives

artículo científico publicado en 2013

Oral topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia: a safety study

artículo científico publicado en 2010

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant

artículo científico publicado en 2010

Pharmacokinetics and local safety profile of propranolol eye drops in rabbits

scientific article published on 16 July 2014

Phenobarbital for neonatal seizures in hypoxic ischemic encephalopathy: a pharmacokinetic study during whole body hypothermia

artículo científico publicado en 2011

Propranolol 0.1% eye micro-drops in newborns with retinopathy of prematurity: a pilot clinical trial

artículo científico publicado en 2016

Propranolol concentrations after oral administration in term and preterm neonates.

artículo científico publicado en 2013

Proteinuria impairs podocyte regeneration by sequestering retinoic acid.

artículo científico publicado en 2013

Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry

scientific article published on 17 May 2007

Rapid and sensitive LC-MS/MS method for the analysis of antibiotic linezolid on dried blood spot

artículo científico publicado en 2012

Rapid assay of rufinamide in dried blood spots by a new liquid chromatography-tandem mass spectrometric method

artículo científico publicado en 2010

Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method.

artículo científico publicado en 2003

Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease

artículo científico publicado en 2002

Reference intervals for orotic acid in urine, plasma and dried blood spot using hydrophilic interaction liquid chromatography–tandem mass spectrometry

artículo científico publicado en 2011

Role of the adrenergic system in a mouse model of oxygen-induced retinopathy: antiangiogenic effects of beta-adrenoreceptor blockade.

artículo científico publicado en 2011

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study.

artículo científico publicado en 2017

Safety and tolerability of antiepileptic drug treatment in children with epilepsy

artículo científico publicado en 2012

Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I

artículo científico publicado en 2013

Serum Amino Acid Profiles in Normal Subjects and in Patients with or at Risk of Alzheimer Dementia

artículo científico publicado en 2017

Serum Levels of Acyl-Carnitines along the Continuum from Normal to Alzheimer's Dementia.

artículo científico publicado en 2016

Serum creatinine during physiological perinatal dehydration may estimate individual nephron endowment

artículo científico publicado en 2018

Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS)

artículo científico publicado en 2011

Solid olive residues: insight into their phenolic composition.

artículo científico publicado en 2005

Strategies for reducing the incidence of skin complications in newborns treated with whole-body hypothermia ⬇️

artículo científico publicado el 14 de mayo de 2012

Study protocol: safety and efficacy of propranolol 0.2% eye drops in newborns with a precocious stage of retinopathy of prematurity (DROP-ROP-0.2%): a multicenter, open-label, single arm, phase II trial.

artículo científico publicado en 2017

Study protocol: safety and efficacy of propranolol in newborns with Retinopathy of Prematurity (PROP-ROP): ISRCTN18523491.

artículo científico publicado en 2010

Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol

artículo científico publicado en 2016

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

artículo científico publicado en 2014

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease

artículo científico publicado en 2011

Synthesis of the essential core of the human glycosylphosphatidylinositol (GPI) anchor

artículo científico publicado en 2011

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

artículo científico publicado en 2012

The 'headache tree' via umbellulone and TRPA1 activates the trigeminovascular system

artículo científico publicado en 2011

The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

artículo científico publicado en 2013

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

artículo científico publicado en 2008

The pathophysiology of retinopathy of prematurity: an update of previous and recent knowledge

artículo científico

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

artículo científico publicado en 2009

Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry.

artículo científico publicado en 2015

Ultrasensitive detection of cancer biomarkers by nickel-based isolation of polydisperse extracellular vesicles from blood.

artículo científico publicado en 2019

Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.

artículo científico publicado en 2017

β3 -Adrenoceptor as a potential immuno-suppressor agent in melanoma

scientific article published on 09 May 2019

Lista de obras de Giancarlo la Marca

A TRPA1 antagonist reverts oxaliplatin-induced neuropathic pain

A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)

A pharmacokinetic study and correlation with clinical response of rufinamide in infants with epileptic encephalopathies.

A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS

Are patients with potential celiac disease really potential? The answer of metabonomics

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child

Bone status of children born from mothers with autoimmune diseases treated during pregnancy with prednisone and/or low molecular weight heparin.

Children who develop type 1 diabetes early in life show low levels of carnitine and amino acids at birth: does this finding shed light on the etiopathogenesis of the disease?

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

Conventional and long-circulating liposomes of artemisinin: preparation, characterization, and pharmacokinetic profile in mice

Data in support for the measurement of heparan sulfate and dermatan sulfate by LC-MS/MS analysis

Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

Delivery of doxorubicin across the blood-brain barrier by ondansetron pretreatment: a study in vitro and in vivo.

Detection of doxorubicin hydrochloride accumulation in the rat brain after morphine treatment by mass spectrometry

Detection of honeybee venom in envenomed tissues by direct MALDI MSI.

Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry

Development of a fast LC-MS/MS protocol for combined measurement of six LSDs on dried blood spot in a newborn screening program

Development of an UPLC-MS/MS method for the determination of antibiotic ertapenem on dried blood spots

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry.

Electrospray ionisation tandem mass spectrometric investigation of phenylpropanoids and secoiridoids from solid olive residue

Enhanced interpretation of newborn screening results without analyte cutoff values.

Expanded newborn screening by mass spectrometry: New tests, future perspectives.

Eye drop propranolol administration promotes the recovery of oxygen-induced retinopathy in mice

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Haematohidrosis treated with propranolol: a case report.

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

High-performance liquid chromatography/electrospray ionization tandem mass spectrometric investigation of stilbenoids in cell cultures of Vitis vinifera L., cv. Malvasia

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Hypothermia for neonatal hypoxic-ischemic encephalopathy: may an early amplitude-integrated EEG improve the selection of candidates for cooling?

Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias

LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I

LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Lactate Rewires Lipid Metabolism and Sustains a Metabolic-Epigenetic Axis in Prostate Cancer

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

Lipoic-based TRPA1/TRPV1 antagonist to treat orofacial pain

Mass spectrometry in clinical chemistry: the case of newborn screening.

Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.

Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry

New developments in the treatment of hyperammonemia: emerging use of carglumic acid.

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

Oleuropein aglycone protects against pyroglutamylated-3 amyloid-ß toxicity: biochemical, epigenetic and functional correlates.

Oleuropein, the Main Polyphenol of Leaf Extract, Has an Anti-Cancer Effect on Human BRAF Melanoma Cells and Potentiates the Cytotoxicity of Current Chemotherapies

Oral propranolol for retinopathy of prematurity: risks, safety concerns, and perspectives

Oral topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia: a safety study

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant

Pharmacokinetics and local safety profile of propranolol eye drops in rabbits

Phenobarbital for neonatal seizures in hypoxic ischemic encephalopathy: a pharmacokinetic study during whole body hypothermia

Propranolol 0.1% eye micro-drops in newborns with retinopathy of prematurity: a pilot clinical trial

Propranolol concentrations after oral administration in term and preterm neonates.

Proteinuria impairs podocyte regeneration by sequestering retinoic acid.

Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry

Rapid and sensitive LC-MS/MS method for the analysis of antibiotic linezolid on dried blood spot

Rapid assay of rufinamide in dried blood spots by a new liquid chromatography-tandem mass spectrometric method

Rapid determination of orotic acid in urine by a fast liquid chromatography/tandem mass spectrometric method.

Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease

Reference intervals for orotic acid in urine, plasma and dried blood spot using hydrophilic interaction liquid chromatography–tandem mass spectrometry

Role of the adrenergic system in a mouse model of oxygen-induced retinopathy: antiangiogenic effects of beta-adrenoreceptor blockade.

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study.

Safety and tolerability of antiepileptic drug treatment in children with epilepsy

Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I

Serum Amino Acid Profiles in Normal Subjects and in Patients with or at Risk of Alzheimer Dementia

Serum Levels of Acyl-Carnitines along the Continuum from Normal to Alzheimer's Dementia.