Lista de obras - Nicola Longo - Dominio Público Uruguay

6q subtelomeric deletion: is there a recognizable syndrome?

artículo científico publicado en 2004

A primer on newborn screening.

artículo científico publicado en 2004

Alternative therapies to address the unmet medical needs of patients with phenylketonuria

artículo científico publicado en 2015

Biochemical abnormalities in Pearson syndrome

artículo científico publicado en 2015

Biochemical findings in common inborn errors of metabolism.

artículo científico publicado en 2006

Cardiomyopathy and carnitine deficiency

artículo científico publicado en 2008

Creatine transporter deficiency in two half-brothers

artículo científico publicado en 2010

Creatine transporter deficiency: Novel mutations and functional studies

artículo científico publicado en 2016

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

scientific article published on 01 November 1998

Developing a National Registry for conditions identifiable through newborn screening.

artículo científico publicado en 2009

Disorders of creatine transport and metabolism

artículo científico publicado en 2011

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

scientific article published on 14 December 2018

Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency

artículo científico publicado en 2013

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation

artículo científico publicado en 2000

Functional and molecular studies in primary carnitine deficiency

artículo científico publicado en 2017

Functional characterization of the carnitine transporter defective in primary carnitine deficiency

artículo científico publicado en 1999

Gene expression in human cells with mutant insulin receptors

artículo científico publicado en 2003

Genotype-phenotype correlation in primary carnitine deficiency ⬇️

artículo científico publicado el 11 de octubre de 2011

Glutaric acidemia type 1

artículo científico publicado en 2006

Glycine transport by cultured human fibroblasts

artículo científico publicado en 1988

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

article

Increased glucose transport by human fibroblasts with a heritable defect in insulin binding

artículo científico publicado en 1989

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria

scientific article published on 23 August 2018

Insulin stimulates the Na+,K(+)-ATPase and the Na+/K+/Cl- cotransporter of human fibroblasts

scientific article published on 01 May 1996

Insulin-induced gene 33 mRNA expression in Chinese hamster ovary cells is insulin receptor dependent

scientific article published on 01 April 2000

Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

artículo científico publicado en 2006

Newborn screening and inborn errors of metabolism ⬇️

artículo científico publicado el 10 de febrero de 2011

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial

artículo científico publicado en 2018

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype

artículo científico publicado en 2004

Pharmacological rescue of carnitine transport in primary carnitine deficiency

artículo científico publicado en 2006

Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts

scientific article published on 01 December 2019

Prenatal analysis of the insulin receptor gene in a family with leprechaunism

artículo científico publicado en 1995

Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle

artículo científico publicado en 2016

Primary and secondary alterations of neonatal carnitine metabolism.

artículo científico publicado en 1999

Progressive decline in insulin levels in Rabson-Mendenhall syndrome

artículo científico publicado en 1999

Response to Chen et al.: Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation ⬇️

artículo científico publicado el 1 de abril de 2013

Round Table Discussion

artículo científico publicado en 2016

SIMD statement on investigational new drugs for rare disease therapies

artículo científico publicado en 2012

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

artículo científico publicado en 2019

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years

artículo científico publicado en 2017

Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter

artículo científico publicado en 2016

Lista de obras de Nicola Longo

6q subtelomeric deletion: is there a recognizable syndrome?

A primer on newborn screening.

Alternative therapies to address the unmet medical needs of patients with phenylketonuria

Biochemical abnormalities in Pearson syndrome

Biochemical findings in common inborn errors of metabolism.

Cardiomyopathy and carnitine deficiency

Creatine transporter deficiency in two half-brothers

Creatine transporter deficiency: Novel mutations and functional studies

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

Developing a National Registry for conditions identifiable through newborn screening.

Disorders of creatine transport and metabolism

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation

Functional and molecular studies in primary carnitine deficiency

Functional characterization of the carnitine transporter defective in primary carnitine deficiency

Gene expression in human cells with mutant insulin receptors

Genotype-phenotype correlation in primary carnitine deficiency ⬇️

Glutaric acidemia type 1

Glycine transport by cultured human fibroblasts

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Increased glucose transport by human fibroblasts with a heritable defect in insulin binding

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria

Insulin stimulates the Na+,K(+)-ATPase and the Na+/K+/Cl- cotransporter of human fibroblasts

Insulin-induced gene 33 mRNA expression in Chinese hamster ovary cells is insulin receptor dependent

Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

Newborn screening and inborn errors of metabolism ⬇️

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

Pharmacological rescue of carnitine transport in primary carnitine deficiency

Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts

Prenatal analysis of the insulin receptor gene in a family with leprechaunism

Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle

Primary and secondary alterations of neonatal carnitine metabolism.

Progressive decline in insulin levels in Rabson-Mendenhall syndrome

Response to Chen et al.: Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation ⬇️

Round Table Discussion

SIMD statement on investigational new drugs for rare disease therapies

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years

Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter