X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (72) 72
index medicus (67) 67
mucopolysaccharidosis (66) 66
genetics & heredity (52) 52
medicine, research & experimental (42) 42
enzymes (41) 41
enzyme replacement therapy (38) 38
male (38) 38
mps iva (38) 38
female (36) 36
child (33) 33
glycosaminoglycans (32) 32
disease (30) 30
medicine (30) 30
child, preschool (28) 28
diagnosis (27) 27
analysis (24) 24
adolescent (23) 23
children (22) 22
sulfates (21) 21
enzyme-replacement therapy (20) 20
mucopolysaccharidosis iva (20) 20
mutation (20) 20
animals (19) 19
adult (18) 18
care and treatment (18) 18
galns (18) 18
infant (18) 18
mucopolysaccharidosis iv - genetics (18) 18
pediatrics (18) 18
biology (17) 17
chondroitinsulfatases - genetics (16) 16
endocrinology & metabolism (16) 16
lysosomal storage disorders (16) 16
morquio (16) 16
biochemistry & molecular biology (15) 15
bone-marrow-transplantation (15) 15
keratan sulfate (15) 15
mass spectrometry (15) 15
morquio a (15) 15
mucopolysaccharidoses (15) 15
phenotype (15) 15
lysosomal storage diseases (14) 14
mps (14) 14
genetics (13) 13
patients (13) 13
health aspects (12) 12
mucopolysaccharidoses - therapy (12) 12
research (12) 12
galns gene (11) 11
gene therapy (11) 11
glycosaminoglycans - metabolism (11) 11
morquio a syndrome (11) 11
mps i (11) 11
mucopolysaccharidosis iv - enzymology (11) 11
review (11) 11
transplantation (11) 11
article (10) 10
heparan sulfate (10) 10
maroteaux-lamy-syndrome (10) 10
mouse model (10) 10
mutations (10) 10
nutritional and metabolic diseases (10) 10
stem cells (10) 10
elosulfase alfa (9) 9
genetic aspects (9) 9
infant, newborn (9) 9
lysosomal storage disorder (9) 9
mice (9) 9
morquio syndrome (9) 9
mucopolysaccharidoses - diagnosis (9) 9
mucopolysaccharidosis iv - diagnosis (9) 9
mucopolysaccharidosis type iva (9) 9
pharmacology & pharmacy (9) 9
research paper (9) 9
young adult (9) 9
age (8) 8
chondroitinsulfatases - metabolism (8) 8
congenital, hereditary, and neonatal diseases and abnormalities (8) 8
deficiency (8) 8
diseases (8) 8
enzyme replacement therapy - methods (8) 8
ert (8) 8
gag, glycosaminoglycan (8) 8
genotype (8) 8
glycosaminoglycans - urine (8) 8
hematopoietic stem cells (8) 8
lysosomal storage disease (8) 8
molecular biology (8) 8
mucopolysaccharidoses - complications (8) 8
natural-history (8) 8
tandem mass-spectrometry (8) 8
therapy (8) 8
urine (8) 8
usage (8) 8
alpha-l-iduronidase (7) 7
development and progression (7) 7
elosulfase alpha (7) 7
ert, enzyme replacement therapy (7) 7
genes (7) 7
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, 06/2019, Volume 14, Issue 1, pp. 137 - 25
Journal Article
Journal Article
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN 1422-0067, 09/2019, Volume 20, Issue 17, p. 4139
Mucopolysaccharidosis IVA (MPS IVA) is caused by a deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Conventional enzyme... 
MPS IVA | MORQUIO | GLYCOSAMINOGLYCANS | BIOCHEMISTRY & MOLECULAR BIOLOGY | thermostable keratanase | HUMAN SERUM | CHEMISTRY, MULTIDISCIPLINARY | skeletal dysplasia | CARTILAGE | GALNS | PLASMA | keratan sulfate | REPLACEMENT THERAPY | HEPARAN-SULFATE | BONE | STEM-CELL TRANSPLANTATION
Journal Article
Bioanalysis, ISSN 1757-6180, 02/2016, Volume 8, Issue 3, pp. 179 - 191
Background: Glycosaminoglycan analysis for the diagnosis of Morquio patients has been daunting due to lack of sensitivity/specificity of the dimethylmethylene... 
MPS IVA | keratan sulfate | mucopolysaccharidosis | Morquio A syndrome | diagnosis | UPLC-MS/MS | CHEMISTRY, ANALYTICAL | MORQUIO | GLYCOSAMINOGLYCANS | BIOCHEMICAL RESEARCH METHODS | VALIDATION | DISORDERS | TANDEM MASS-SPECTROMETRY | LC-MS/MS | MUCOPOLYSACCHARIDOSIS TYPE IVA
Journal Article
Gene, ISSN 0378-1119, 07/2019, Volume 704, pp. 59 - 67
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic mutations gene and characterized by progressive skeletal deformities... 
Phenotype | Height | Attenuated form | MPS-IVA | GALNS gene | MORQUIO | VARIANTS | GENOTYPE | GUIDELINES | IDENTIFICATION | N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE | GALNS | HETEROGENEITY | ENZYME | GENETICS & HEREDITY | Genetic research | Medicine, Experimental | Medical research | Mucopolysaccharidosis | Genetic aspects | Diagnosis
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2013, Volume 36, Issue 2, pp. 235 - 246
Journal Article
The Application of Clinical Genetics, ISSN 1178-704X, 06/2016, Volume 2016, Issue Issue 1, pp. 67 - 74
Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis... 
MPS IVA | Morquio syndrome | enzyme replacement therapy | ERT | Elosulfase alfa | Mucopolysaccharidosis type IV
Journal Article
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2019, Volume 20, p. 100487
Mucopolysaccharidosis (MPS) type IVA is a rare, autosomal recessive lysosomal storage disease causing substrate accumulation in various organs and tissues. MPS... 
MPS | Morquio syndrome | Respiratory changes | Mucopolysaccharidosis IVA | Enzyme replacement therapy | Sleep disordered breathing | MORQUIO | SLEEP | BMN 110 | NATURAL-HISTORY | AIRWAY | ELOSULFASE ALPHA | PULSE OXIMETRY | DISEASE | GENETICS & HEREDITY
Journal Article