Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

M.G.E.M. Ausems, J. R. Verbiest, MMP Hermans, +6

European Journal of Human Genetics

Genetic TestingMendelian DisorderInherited Metabolic DiseaseGenetic EpidemiologyDiabetes +7

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

Marian A. Kroos, Robert J. Pomponio, M.L.C. Hagemans, +10

Neurology

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Bryan Winchester, Deeksha Bali, Olaf A. Bodamer, +25

Molecular Genetics and Metabolism

Medical DiagnosticsPompe DiseaseInternational Consensus MeetingEngineeringMedicine +8

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

A. G. A. Bijvoet, Esther H. M. van de Kamp, Marian A. Kroos, +8

Human Molecular Genetics

Late-onset Pompe disease primarily affects quality of life in physical health domains

M.L.C. Hagemans, A. Cecile J.W. Janssens, Léon P. F. Winkel, +4

Neurology

Quality Of LifeLife AssessmentDisease ProgressionHealth OutcomeMental Health Scale +19

Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease

Nadine A. M. E. van der Beek, Carine I. van Capelle, K.I. van der Velden-van Etten, +6

Molecular Genetics and Metabolism

Pompe DiseaseEpidemiologyAdvanced Lung DiseasePredictive FactorsClinical Epidemiology +7

Course of disability and respiratory function in untreated late-onset Pompe disease

M.L.C. Hagemans, Wim Hop, Pieter A. van Doorn, +2

Neurology

Clinical FindingDisease ProgressionRespiratory FunctionFifty-two Untreated PatientsPediatrics +7

Recombinant Human Acid  -Glucosidase: High Level Production in Mouse Milk, Biochemical Characteristics, Correction of Enzyme Deficiency in GSDII KO Mice

A. G. A. Bijvoet, Marian A. Kroos, Frank Pieper, +5

Human Molecular Genetics

Impact of late-onset Pompe disease on participation in daily life activities: Evaluation of the Rotterdam Handicap Scale

M.L.C. Hagemans, Pascal Laforêt, Wim Hop, +4

Neuromuscular Disorders

Quality Of LifeDaily Life ActivitiesPhysical ActivityHealth SciencesGeriatrics +10

A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse

Rob Willemsen, Victor L. J. Tybulewicz, Ellen Sidransky, +8

Molecular and Chemical Neuropathology

Animal PhysiologyGaucher MouseKnockout MouseBiochemistryBioanalysis +4