Skip to main navigation
Skip to search
Skip to main content
Maastricht University Home
Support & FAQ
Home
Researchers
Publications
Activities
Press/Media
Prizes
Organisations
Dataset/Software
Projects
Search by expertise, name or affiliation
Childhood Pompe disease: clinical spectrum and genotype in 31 patients
C. I. van Capelle
, J. C. van der Meijden
, J. M. P. van den Hout
, J. Jaeken
, M. Baethmann
, T. Voit
, M. A. Kroos
, T. G. J. Derks
,
M. E. Rubio-Gozalbo
, M. A. Willemsen
, R. H. Lachmann
, E. Mengel
, H. Michelakakis
, J. C. de Jongste
, A. J. J. Reuser
, A. T. van der Ploeg
*
*
Corresponding author for this work
GROW - Reproductive and Perinatal Medicine
Kindergeneeskunde
MA Medische Staf Kindergeneeskunde
Research output
:
Contribution to journal
›
Article
›
Academic
›
peer-review
Overview
Fingerprint
Fingerprint
Dive into the research topics of 'Childhood Pompe disease: clinical spectrum and genotype in 31 patients'. Together they form a unique fingerprint.
Sort by
Weight
Alphabetically
Keyphrases
Clinical Spectrum
100%
Genotype
100%
Pompe Disease
100%
Muscle Strength
50%
Persistent Diarrhea
50%
Neck Flexion
50%
Netherlands
25%
Scoliosis
25%
Clinical Characteristics
25%
Affected children
25%
Severely Affected
25%
Enzyme Replacement Therapy
25%
Adult Patients
25%
Age of Onset
25%
Differential Diagnosis
25%
Rotterdam
25%
Delayed Diagnosis
25%
Cardiac Hypertrophy
25%
Persistent Problems
25%
Myopathic
25%
Reflex
25%
18 Years Old
25%
Supine Position
25%
Wheelchair
25%
Limb-girdle muscle Weakness
25%
Cardiac Parameters
25%
Motor Problems
25%
Pompe
25%
Respiratory Problems
25%
Abductor
25%
Mobility Problems
25%
Hip Extensors
25%
Delayed Psychomotor Development
25%
Respirator
25%
Pulmonary Function
25%
Infantile Form
25%
Null Genotype
25%
Enzyme Analysis
25%
Non-classic
25%
Pulmonary Function Parameters
25%
Mutation Analysis
25%
First Symptom
25%
Working Diagnosis
25%
Disease Presentation
25%
First Problem
25%
Hip Flexor
25%
INIS
diseases
100%
patients
100%
spectra
100%
genotype
100%
symptoms
30%
children
30%
information
20%
males
20%
muscles
20%
mutations
20%
enzymes
20%
fatigue
20%
diarrhea
20%
therapy
10%
motors
10%
netherlands
10%
mobility
10%
gain
10%
evaluation
10%
reflexes
10%
range
10%
inclusions
10%
adults
10%
limbs
10%
hypertrophy
10%
respirators
10%
Medicine and Dentistry
Glycogen Storage Disease Type II
100%
Diarrhea
50%
Muscle Strength
50%
Neck
50%
Lung Function
50%
Weakness
50%
Scoliosis
25%
Ventricular Hypertrophy
25%
Differential Diagnosis
25%
Limb
25%
Supine Position
25%
Motor Development
25%
Underweight
25%
Enzyme Replacement Therapy
25%
Diseases
25%
Pharmacology, Toxicology and Pharmaceutical Science
Glycogen Storage Disease Type 2
100%
Diarrhea
50%
Weakness
50%
Underweight
25%
Scoliosis
25%
Replacement Therapy
25%
Heart Ventricle Hypertrophy
25%
Diseases
25%