X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
genetics & heredity (63) 63
humans (63) 63
index medicus (63) 63
medicine, research & experimental (47) 47
male (43) 43
female (42) 42
endocrinology & metabolism (35) 35
enzyme replacement therapy (34) 34
enzymes (31) 31
child (30) 30
child, preschool (29) 29
adult (28) 28
adolescent (26) 26
mucopolysaccharidosis (26) 26
disease (20) 20
genetics (20) 20
pediatrics (20) 20
care and treatment (19) 19
infant (19) 19
diagnosis (17) 17
health aspects (17) 17
analysis (16) 16
medicine (15) 15
research (15) 15
biopharmaceutics (14) 14
children (14) 14
young adult (14) 14
middle aged (13) 13
quality of life (13) 13
treatment outcome (13) 13
enzyme-replacement therapy (12) 12
patients (12) 12
infant, newborn (11) 11
management (11) 11
mutation (11) 11
abridged index medicus (10) 10
glycosaminoglycans (10) 10
medical research (10) 10
biochemistry & molecular biology (9) 9
laronidase (9) 9
maroteaux-lamy-syndrome (9) 9
medicine, experimental (9) 9
double-blind method (8) 8
life sciences (8) 8
safety (8) 8
clinical trials (7) 7
disease progression (7) 7
fabry disease - drug therapy (7) 7
follow-up studies (7) 7
glycosaminoglycans - urine (7) 7
lysosomal storage disorder (7) 7
medicine & public health (7) 7
metabolic disorders (7) 7
molecular biology (7) 7
pharmacology (7) 7
phenotype (7) 7
transplantation (7) 7
alpha-galactosidase - therapeutic use (6) 6
article (6) 6
bone-marrow-transplantation (6) 6
endurance (6) 6
fabry's disease (6) 6
follow-up (6) 6
internal medicine (6) 6
medical screening (6) 6
retrospective studies (6) 6
risk factors (6) 6
surveys and questionnaires (6) 6
6-minute walk test (5) 5
age (5) 5
biochemistry (5) 5
bone marrow transplantation (5) 5
development and progression (5) 5
efficacy (5) 5
endocrinology (5) 5
gene (5) 5
genetic disorders (5) 5
growth (5) 5
hurler-syndrome (5) 5
iduronate sulfatase - therapeutic use (5) 5
idursulfase (5) 5
lysosomal storage diseases (5) 5
metabolic diseases (5) 5
mucopolysaccharidosis iva (5) 5
mucopolysaccharidosis vi (5) 5
n-acetylgalactosamine 4-sulfatase (5) 5
n-acetylgalactosamine-4-sulfatase - therapeutic use (5) 5
original (5) 5
physiological aspects (5) 5
plasma (5) 5
recombinant proteins - therapeutic use (5) 5
registry (5) 5
respiratory function tests (5) 5
siblings (5) 5
storage (5) 5
activities of daily living (4) 4
age of onset (4) 4
alpha-galactosidase (4) 4
congenital, hereditary, and neonatal diseases and abnormalities (4) 4
cross-sectional studies (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 72 - 72
Journal Article
Paediatric drugs, 04/2016, Volume 18, Issue 2, p. 139
The aim was to describe the status of patients with urea cycle disorders (UCD) at the latest long-term clinical follow-up of treatment with a new taste-masked... 
Follow-Up Studies | Administration, Oral | Humans | Phenylbutyrates - administration & dosage | Quality of Life | Taste | Patient Compliance | Urea Cycle Disorders, Inborn - drug therapy | Chemistry, Pharmaceutical | Health Care Surveys
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 12/2012, Volume 97, Issue 12, pp. 1081 - 1085
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, pp. e0181700 - e0181700
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2019, Volume 96, Issue 4, pp. 281 - 289
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resulting from pathogenic variants in the α‐L‐iduronidase ( IDUA ) gene. Clinical... 
hurler syndrome | lysosomal storage disease | iduronidase | mucopolysaccharidosis | genotype‐phenotype | Scheie syndrome | metabolic disease | lysosome | Mucopolysaccharidosis | Genetic aspects | Analysis | Genes | Genotype & phenotype | Phenotypes | Alleles | Medical screening | Genotypes | Hereditary diseases | Index Medicus
Journal Article
Presse Medicale, ISSN 0755-4982, 12/2009, Volume 38, Issue 2, pp. S24 - S27
Gaucher's disease is an autosomal recessive inherited disorder caused by a defi ciency of glucocerebrosidase enzyme. Three major phenotypes are classically... 
Journal Article
La Presse Medicale, ISSN 0755-4982, 2009, Volume 38, pp. 2S24 - 2S27
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S53 - S53
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2015, Volume 100, Issue 6, pp. e1 - e1
Objectives To describe a nationwide system for pre-marketing follow-up (cohort ATU protocol, i.e. “therapeutic utilization”) of a new taste-masked formulation... 
Orphan drugs | Urologic diseases | Care and treatment | Analysis | Dosage and administration | Urea cycle | Health aspects | Risk factors | Quality of life
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 310 - 321
Journal Article
Journal Article