UB Paderborn / Katalog / Suche / in CDI

Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina

Journal of inborn errors of metabolism and screening, 2022, Vol.10

2022

Volltextzugriff (PDF)

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

Frontiers in neurology, 2022-08, Vol.13, p.920421-920421

2022

Volltextzugriff (PDF)

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.185-185, Article 185

2021

Volltextzugriff (PDF)

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.203-203, Article 203

2019

Volltextzugriff (PDF)

Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America

Journal of pain and symptom management, 2018-07, Vol.56 (1), p.146-152

2018

Volltextzugriff (PDF)

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

JIMD reports, 2021-03, Vol.58 (1), p.104-113

2021

Volltextzugriff (PDF)

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Orphanet journal of rare diseases, 2023-12, Vol.18 (1), p.1-378, Article 378

2023

Volltextzugriff (PDF)

“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Journal of inborn errors of metabolism and screening, 2021, Vol.9

2021

Volltextzugriff (PDF)

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

Genetics and molecular biology, 2014-06, Vol.37 (2), p.315-329

2014

Volltextzugriff (PDF)

Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America

Journal of inborn errors of metabolism and screening, 2020, Vol.8

2020

Volltextzugriff (PDF)

Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Journal of inborn errors of metabolism and screening, 2021, Vol.9

2021

Volltextzugriff (PDF)

Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

Journal of inherited metabolic disease, 2010-10, Vol.33 (2), p.289-294

2010

Volltextzugriff (PDF)

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Genetics in medicine, 2022-07, Vol.24 (7), p.1425-1436

2022

Volltextzugriff (PDF)

Design of a Phase 3 study of AAV-mediated gene transfer of ornithine transcarbamylase (OTC) in patients with late-onset OTC deficiency

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108229, Article 108229

2024

Volltextzugriff (PDF)

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate

Journal of human genetics, 2004-01, Vol.49 (9), p.490-494

2004

Volltextzugriff (PDF)

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.54-61

2013

Volltextzugriff (PDF)

Manejo inicial de la hiperamonemia aguda en pediatría

Archivos argentinos de pediatría, 2023-06, Vol.121 (3), p.11-11

2023

Volltextzugriff (PDF)

Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107875, Article 107875

2024

Volltextzugriff (PDF)

Initial management of acute hyperammonemia in pediatrics

Archivos argentinos de pediatría, 2023-06, Vol.121 (3), p.e202202614-e202202614

2023

Volltextzugriff (PDF)

CLN2 disease (neuronal ceroid lipofuscinosis type 2): Experience in the real world with cerliponase alfa intracerebroventricular enzyme replacement therapy in a public hospital in Cordoba, Argentina

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S128-S128

2018

Volltextzugriff (PDF)

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

Human mutation, 2020-09, Vol.41 (9), p.1469-1487

2020

Volltextzugriff (PDF)

Consequences of late diagnosis and treatment in patients with Gaucher disease type 1: Experience of the Argentine group

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107323, Article 107323

2023

Volltextzugriff (PDF)

Management of CLN1 Disease: International Clinical Consensus

Pediatric neurology, 2021-07, Vol.120, p.38-51

2021

Volltextzugriff (PDF)

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

Journal of child neurology, 2021-05, Vol.36 (6), p.468-474

2021

Volltextzugriff (PDF)

Menü

Weitere Dienste

Einstellungen

Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

Management strategies for CLN2 disease

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America

Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Design of a Phase 3 study of AAV-mediated gene transfer of ornithine transcarbamylase (OTC) in patients with late-onset OTC deficiency

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Manejo inicial de la hiperamonemia aguda en pediatría

Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)

Initial management of acute hyperammonemia in pediatrics

CLN2 disease (neuronal ceroid lipofuscinosis type 2): Experience in the real world with cerliponase alfa intracerebroventricular enzyme replacement therapy in a public hospital in Cordoba, Argentina

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

Consequences of late diagnosis and treatment in patients with Gaucher disease type 1: Experience of the Argentine group

Management of CLN1 Disease: International Clinical Consensus

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

Suchergebnisse filtern