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International Pompe Association
International Pompe Association

PDF) Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct;161A(10):2431-43. Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer
PDF) Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct;161A(10):2431-43. Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer

Genetic variants in gnomAD, ClinVar (including ClinGen), Pompe DB, or... | Download Scientific Diagram
Genetic variants in gnomAD, ClinVar (including ClinGen), Pompe DB, or... | Download Scientific Diagram

JCM | Free Full-Text | Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots
JCM | Free Full-Text | Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots

The Pompe Disease Registry and How It Can Help Your Child
The Pompe Disease Registry and How It Can Help Your Child

2019 AMDA POMPE CONFERENCE - YouTube
2019 AMDA POMPE CONFERENCE - YouTube

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease | Genetics in Medicine
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease | Genetics in Medicine

Characteristics of Patients With Late-Onset Pompe Disease in France | Neurology
Characteristics of Patients With Late-Onset Pompe Disease in France | Neurology

Patient Registries for Pompe Disease | Pompe Support Network
Patient Registries for Pompe Disease | Pompe Support Network

Frontiers | Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience
Frontiers | Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

IJMS | Free Full-Text | Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies
IJMS | Free Full-Text | Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies

Front Cover, Volume 40, Issue 11 - Reuser - 2019 - Human Mutation - Wiley Online Library
Front Cover, Volume 40, Issue 11 - Reuser - 2019 - Human Mutation - Wiley Online Library

Lumizyme | The Pompe Registry
Lumizyme | The Pompe Registry

Implementing a population-based rare diseases registry in Spain: the Navarre´s experience » Institute for rare diseases
Implementing a population-based rare diseases registry in Spain: the Navarre´s experience » Institute for rare diseases

FRD-2022-0009 – Spanish – Plain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease
FRD-2022-0009 – Spanish – Plain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease

Articolo
Articolo

Frontiers | Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations
Frontiers | Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations

International Pompe Day - International Pompe Association
International Pompe Day - International Pompe Association

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry - Reuser - 2019 - Human Mutation - Wiley Online Library
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry - Reuser - 2019 - Human Mutation - Wiley Online Library

PDF) The Pompe Registry: 10 Years of Data
PDF) The Pompe Registry: 10 Years of Data

PD Registry Provides Insights on Patients Receiving Enzyme Replacement Therapy - Rare Disease Advisor
PD Registry Provides Insights on Patients Receiving Enzyme Replacement Therapy - Rare Disease Advisor

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry - ScienceDirect
Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry - ScienceDirect

Genetic variants in gnomAD, ClinVar (including ClinGen), Pompe DB, or... | Download Scientific Diagram
Genetic variants in gnomAD, ClinVar (including ClinGen), Pompe DB, or... | Download Scientific Diagram

Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients – topic of research paper in Biological sciences. Download scholarly article PDF and read for free
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients – topic of research paper in Biological sciences. Download scholarly article PDF and read for free