X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (46) 46
index medicus (39) 39
female (31) 31
male (28) 28
child (24) 24
enzyme replacement therapy (19) 19
child, preschool (18) 18
mucopolysaccharidosis (18) 18
adolescent (17) 17
adult (17) 17
maroteaux-lamy syndrome (16) 16
pediatrics (16) 16
genetics & heredity (14) 14
endocrinology & metabolism (13) 13
enzymes (12) 12
mutation (11) 11
young adult (11) 11
mucopolysaccharidosis type vi (10) 10
phenotype (10) 10
retrospective studies (10) 10
children (9) 9
medicine & public health (9) 9
middle aged (9) 9
diagnosis (8) 8
medicine, research & experimental (8) 8
age (7) 7
aged (7) 7
disease (7) 7
disease progression (7) 7
internal medicine (7) 7
surgery (7) 7
treatment outcome (7) 7
adenylosuccinate lyase - deficiency (6) 6
analysis (6) 6
anthropometric features (6) 6
infant (6) 6
management (6) 6
mucopolysaccharidosis type ii (6) 6
mucopolysaccharidosis vi - diagnosis (6) 6
biochemistry & molecular biology (5) 5
bone (5) 5
clinical neurology (5) 5
follow-up studies (5) 5
genetic predisposition to disease (5) 5
genotype-phenotype analysis (5) 5
glycosaminoglycans (5) 5
health aspects (5) 5
hunter syndrome (5) 5
joint disease (5) 5
maroteaux–lamy syndrome (5) 5
patients (5) 5
poland (5) 5
prevalence (5) 5
purine-pyrimidine metabolism, inborn errors - diagnosis (5) 5
thyroid neoplasms - pathology (5) 5
adenylosuccinate lyase deficiency (4) 4
age factors (4) 4
alleles (4) 4
anthropometry (4) 4
autistic disorder (4) 4
body height (4) 4
cardiac patients (4) 4
cholesteryl ester storage disease (4) 4
choroba maroteaux-lamy’ego (4) 4
diseases (4) 4
disorders (4) 4
dna mutational analysis (4) 4
dysostosis multiplex (4) 4
enzyme-replacement therapy (4) 4
genes (4) 4
genetic association studies (4) 4
genotype–phenotype analysis (4) 4
heart failure (4) 4
hepatosplenomegaly (4) 4
heterozygote (4) 4
human genetics (4) 4
identification (4) 4
infant, newborn (4) 4
lysosomal acid lipase deficiency (4) 4
lysosomal storage diseases (4) 4
maroteaux-lamy-syndrome (4) 4
maternal and child health (4) 4
mechanism (4) 4
medicine (4) 4
mucopolysaccharidosis ii - diagnosis (4) 4
mucopolysaccharidosis vi - genetics (4) 4
mukopolisacharydoza typu vi (4) 4
patient (4) 4
poland - epidemiology (4) 4
purine metabolism (4) 4
pyrimidine metabolism (4) 4
radiography (4) 4
recombinant proteins - therapeutic use (4) 4
risk factors (4) 4
wolman disease (4) 4
adenylosuccinate lyase (3) 3
adenylosuccinate lyase - genetics (3) 3
animals (3) 3
arylsulfatase b (3) 3
arylsulfatase-b gene (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 05/2015, Volume 52, Issue 5, pp. 312 - 316
Background Resistance to thyroid hormone is characterised by a lack of response of peripheral tissues to the active form of thyroid hormone (triiodothyronine,... 
ALPHA | GENETICS & HEREDITY | BETA | Laboratories | Genes | Genomics | Nervous system | Thyroid gland | Genomes | Metabolism | Hypothyroidism | Patients | Children & youth | Studies | Genotype & phenotype | Mutation | Age
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2015, Volume 10, Issue 4, p. e0123792
Journal Article
Pediatrics & Neonatology, ISSN 1875-9572, 2015, Volume 57, Issue 3, pp. 181 - 187
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 09/2018, Volume 19, Issue 9, p. 2647
Journal Article
Reumatologia, ISSN 0034-6233, 2014, Volume 52, Issue 6, pp. 354 - 361
  Objectives: To assess different parameters of bone metabolism in patients with mucopolysaccharidosis type II (MPS II) to better comprehend the mechanisms... 
Osteoporosis | Bone mineral density | Mucopolysaccharidosis | Vitamin D | mucopolysaccharidosis | bone mineral density | osteoporosis | vitamin D
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 231 - 242
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S116 - S116
Journal Article
Journal Article