about
Primary and secondary alterations of neonatal carnitine metabolism.Genotype-phenotype correlation in primary carnitine deficiencyA primer on newborn screening.Biochemical findings in common inborn errors of metabolism.Glutaric acidemia type 1Cardiomyopathy and carnitine deficiencyWide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter.Creatine transporter deficiency: Novel mutations and functional studies.Developing a National Registry for conditions identifiable through newborn screening.6q subtelomeric deletion: is there a recognizable syndrome?Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.Metabolic changes associated with hyperammonemia in patients with propionic acidemia.Functional and molecular studies in primary carnitine deficiency.Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.Disorders of creatine transport and metabolism.Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.Pharmacological rescue of carnitine transport in primary carnitine deficiency.Round Table Discussion.Progressive decline in insulin levels in Rabson-Mendenhall syndrome.Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.Creatine transporter deficiency in two half-brothers.Biochemical abnormalities in Pearson syndrome.Gene expression in human cells with mutant insulin receptors.Alternative therapies to address the unmet medical needs of patients with phenylketonuria.Hyperammonaemia in classic organic acidaemias: a review of the literature and two case historiesSIMD statement on investigational new drugs for rare disease therapiesGlycine transport by cultured human fibroblastsIncreased glucose transport by human fibroblasts with a heritable defect in insulin bindingPrenatal analysis of the insulin receptor gene in a family with leprechaunismInsulin stimulates the Na+,K(+)-ATPase and the Na+/K+/Cl- cotransporter of human fibroblastsDefective urinary carnitine transport in heterozygotes for primary carnitine deficiencyInsulin-induced gene 33 mRNA expression in Chinese hamster ovary cells is insulin receptor dependentFunctional characterization of the carnitine transporter defective in primary carnitine deficiencyNewborn screening and inborn errors of metabolismResponse to chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlationEvidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuriaInduction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuriaSLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
P50
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P50
description
hulumtues
@sq
researcher
@en
ricercatore
@it
wetenschapper
@nl
հետազոտող
@hy
name
Nicola Longo
@ast
Nicola Longo
@en
Nicola Longo
@es
Nicola Longo
@nl
Nicola Longo
@sl
type
label
Nicola Longo
@ast
Nicola Longo
@en
Nicola Longo
@es
Nicola Longo
@nl
Nicola Longo
@sl
prefLabel
Nicola Longo
@ast
Nicola Longo
@en
Nicola Longo
@es
Nicola Longo
@nl
Nicola Longo
@sl
P106
P21
P214
3334150325576710090002
P31
P496
0000-0002-3677-1216
P569
2000-01-01T00:00:00Z
P734
P735
P7859
viaf-3334150325576710090002