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List of works by Giancarlo la Marca

A TRPA1 antagonist reverts oxaliplatin-induced neuropathic pain

scientific article published on January 2013

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

scientific article published on 23 July 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.

scientific article published on 24 May 2013

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

scientific article published on 17 December 2014

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

scientific article published on 7 December 2015

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

scientific article published on 11 January 2017

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

scientific article

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

scientific article published on 13 December 2010

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

scientific article published on 18 March 2015

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

scientific article

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?

scientific article published on 28 October 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.

scientific article

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

scientific article published in March 2011

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

scientific article published on 16 December 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

scientific article published on 10 May 2012

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

scientific article

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

scientific article published on 25 August 2010

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

scientific article

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

scientific article

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

scientific article published on 03 December 2018

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

scientific article published on 23 December 2011

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

scientific article published on 24 April 2014

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

scientific article

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

scientific article published on 01 January 2006

Enhanced interpretation of newborn screening results without analyte cutoff values.

scientific article published on 16 February 2012

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

scientific article published on 07 May 2015

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

scientific article published on 23 March 2013

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

scientific article published on 25 May 2011

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

scientific article

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

scientific article published on 01 December 2005

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

scientific article published in January 2006

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

scientific article

Haematohidrosis treated with propranolol: a case report.

scientific article published on 6 February 2018

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

scientific article published on 11 September 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.

scientific article

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

scientific article

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

scientific article published on 4 May 2012

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

scientific article published on 01 November 2006

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

scientific article published on 09 July 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

scientific article published on 29 December 2011

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

scientific article published on 02 November 2018

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

scientific article

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

scientific article published on 01 April 2022

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

scientific article published on 24 January 2018

Lipoic-based TRPA1/TRPV1 antagonist to treat orofacial pain

scientific article published on 6 January 2015

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

scientific article published on 28 April 2014

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

scientific article

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

scientific article published on 31 October 2013

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

scientific article published on 4 November 2009

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

scientific article published in June 2011

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

scientific article published on 07 January 2011

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

scientific article published on 01 August 2009

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

scientific article

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

scientific article

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

scientific article published on 08 December 2018

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

scientific article published on 18 September 2013

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

scientific article published on 31 May 2010

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

scientific article published on 02 June 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

scientific article published on 03 March 2011

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

scientific article published on 4 November 2016

Propranolol concentrations after oral administration in term and preterm neonates.

scientific article published on 31 January 2013

Proteinuria impairs podocyte regeneration by sequestering retinoic acid.

scientific article published on 15 August 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

scientific article

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

scientific article published on 22 July 2010

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

scientific article published in January 2003

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

scientific article published in January 2002

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

scientific article published on 06 October 2011

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

scientific article published on 5 January 2011

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

scientific article published on 8 March 2017

Safety and tolerability of antiepileptic drug treatment in children with epilepsy

scientific article

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

scientific article published on 01 January 2013

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

scientific article

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

scientific article

Serum creatinine during physiological perinatal dehydration may estimate individual nephron endowment

scientific article published in February 2018

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

scientific article published on 16 June 2011

Solid olive residues: insight into their phenolic composition.

scientific article published in November 2005

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

scientific article published on May 14, 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.

scientific article

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

scientific article

Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol

scientific article

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

scientific article

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

scientific article published on 21 December 2011

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

scientific article published in April 2011

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

scientific article published on 30 December 2012

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

scientific article

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

scientific article published on 8 September 2013

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

scientific article

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

scientific article published on 26 April 2013

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

scientific article published in December 2009

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

scientific article published on 28 February 2015

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

scientific article published on 29 April 2019

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

scientific article published on 7 December 2017

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

scientific article published on 09 May 2019

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