X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (109) 109
humans (102) 102
chondroitinsulfatases - metabolism (68) 68
chondroitinsulfatases - genetics (51) 51
female (41) 41
male (41) 41
mucopolysaccharidosis iv - genetics (39) 39
genetics & heredity (36) 36
mucopolysaccharidosis iv - enzymology (33) 33
adolescent (29) 29
adult (29) 29
biochemistry & molecular biology (28) 28
mucopolysaccharidosis (28) 28
enzymes (27) 27
child (26) 26
mucopolysaccharidosis iva (25) 25
sulfates (25) 25
animals (24) 24
analysis (22) 22
keratan sulfate (21) 21
medicine, research & experimental (21) 21
child, preschool (20) 20
mutation (20) 20
mucopolysaccharidosis iv - diagnosis (17) 17
n-acetylgalactosamine-6-sulfate sulfatase (17) 17
chondroitinsulfatases - therapeutic use (16) 16
disease (16) 16
chondroitinsulfatases - chemistry (15) 15
galns (15) 15
mucopolysaccharidosis iv - drug therapy (15) 15
mucopolysaccharidosis iv - pathology (15) 15
phenotype (15) 15
deficiency (14) 14
diagnosis (14) 14
identification (14) 14
cells, cultured (13) 13
dna mutational analysis (13) 13
fibroblasts - enzymology (13) 13
molecular sequence data (13) 13
mucopolysaccharidosis type iva (13) 13
young adult (13) 13
chondroitinsulfatases - deficiency (12) 12
endocrinology & metabolism (12) 12
enzyme replacement therapy (12) 12
galns gene (12) 12
genotype (12) 12
lysosomal storage diseases (12) 12
middle aged (12) 12
glycosaminoglycans (11) 11
hyaluronoglucosaminidase - metabolism (11) 11
amino acid sequence (10) 10
base sequence (10) 10
enzyme replacement therapy - methods (10) 10
infant (10) 10
internal medicine (10) 10
substrate specificity (10) 10
article (9) 9
chondroitinsulfatases - isolation & purification (9) 9
genetic aspects (9) 9
keratan sulfate - metabolism (9) 9
mice (9) 9
pedigree (9) 9
pregnancy (9) 9
transfection (9) 9
chondroitinases and chondroitin lyases - metabolism (8) 8
double-blind method (8) 8
genetics (8) 8
kinetics (8) 8
mutations (8) 8
chondroitin sulfates - metabolism (7) 7
chondroitinsulfatases - pharmacokinetics (7) 7
exons (7) 7
gene expression (7) 7
genetic research (7) 7
glycosaminoglycans - metabolism (7) 7
glycosaminoglycans - urine (7) 7
keratan sulfate - urine (7) 7
medicine & public health (7) 7
morquio a syndrome (7) 7
morquio-disease (7) 7
mps iva (7) 7
mutation, missense (7) 7
n-acetylgalactosamine-6-sulfate sulfatase gene (7) 7
protein conformation (7) 7
sulfatases - metabolism (7) 7
treatment outcome (7) 7
aged (6) 6
beta-galactosidase - metabolism (6) 6
biochemistry, general (6) 6
biopharmaceutics (6) 6
chondroitin sulfate (6) 6
chondroitinsulfatases - administration & dosage (6) 6
classical morquio (6) 6
fibroblasts - metabolism (6) 6
gene (6) 6
health aspects (6) 6
heterogeneity (6) 6
hydrogen-ion concentration (6) 6
lysosomes - enzymology (6) 6
missense mutations (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 8, pp. e12194 - e12194
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an... 
HUMAN N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE | MPS IVA | MURINE MODEL | BIOLOGY | MATRIX COMPONENTS | HUMAN ARTICULAR CHONDROCYTES | LYSOSOMAL STORAGE DISORDERS | MORQUIO-A DISEASE | KERATAN SULFATE | SKELETAL DEVELOPMENT | DEFICIENCY | Recombinant Proteins - therapeutic use | Liver - pathology | Humans | Chondroitinsulfatases - therapeutic use | Recombinant Proteins - pharmacokinetics | Heart Valves - metabolism | Recombinant Proteins - isolation & purification | Chondroitinsulfatases - isolation & purification | Chondroitinsulfatases - metabolism | Lysosomes - metabolism | Biological Transport | Cattle | Mucopolysaccharidosis IV - pathology | Female | Chondrocytes - metabolism | Recombinant Proteins - metabolism | Chondrocytes - pathology | Mucopolysaccharidosis IV - metabolism | Keratan Sulfate - metabolism | Cartilage - metabolism | Growth Plate - metabolism | Mucopolysaccharidosis IV - drug therapy | Chondroitinsulfatases - pharmacokinetics | Gene Expression Regulation - drug effects | Enzyme Replacement Therapy - methods | Macrophages - metabolism | Animals | Mice | Phosphates | Enzymes | Analysis | Collagen | Mucopolysaccharidosis | Models | Sulfates | Gene expression | Therapy | N-Acetylgalactosamine | Collagen (type I) | Intravenous administration | Enzyme activity | Disease | Collagen (type II) | Sox9 protein | Keratan sulfate | Liver | Medical services | Lysosomes | Homeostasis | Mannose | Arthritis | Hydroxyapatite | Macrophages | Bone surgery | Cartilage | Growth plate | Enzymatic activity | Collagen (type X) | Rodents | Animal tissues | Fibroblasts | Bone marrow | Recombinant | Mortality | Heart valves | Pathology | Storage | Hepatocytes | Chondrocytes | Sulfate | Aberration | Aggrecan | N-Acetylgalactosamine-6-sulfatase | Pharmaceuticals | Index Medicus | Animal models
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 09/2018, Volume 19, Issue 1, pp. 162 - 162
Background: Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta... 
GlcNAc-1-phosphotransferase | Mucolipidosis III alpha/beta | GNPTAB | Pseudo-hurler polydystrophy | P.Q802 | Nonsense variant | MUCOPOLYSACCHARIDOSES | PHENOTYPE | SUBUNITS | LYSOSOMAL STORAGE DISORDERS | TANDEM MASS-SPECTROMETRY | TRANSPLANTATION | GENETIC-VARIATION | GENETICS & HEREDITY | OUTCOMES | I-CELL-DISEASE | Iduronate Sulfatase - metabolism | Transferases (Other Substituted Phosphate Groups) - genetics | Humans | beta-Hexosaminidase alpha Chain - metabolism | Child, Preschool | Lysosomes - enzymology | Male | Mucolipidoses - diagnosis | N-Acetylgalactosamine-4-Sulfatase - genetics | Chondroitinsulfatases - metabolism | beta-Hexosaminidase alpha Chain - genetics | Lysosomes - pathology | Transferases (Other Substituted Phosphate Groups) - deficiency | Iduronidase - genetics | Chondroitinsulfatases - genetics | Iduronidase - metabolism | Mucolipidoses - enzymology | Gene Expression Regulation | Mucolipidoses - genetics | Codon, Nonsense | Genes, Recessive | Mucolipidoses - pathology | Pedigree | Iduronate Sulfatase - genetics | N-Acetylgalactosamine-4-Sulfatase - metabolism | Case studies | Gene mutations | Genetic variation | Mucolipidoses | Transferases | Genetic research | Genetic aspects | Health aspects | Neonates | Inborn errors of metabolism | Transplants & implants | Nonsense mutation | Systematic review | Mannose | Mucopolysaccharidosis | Microcephaly | Genetic screening | Hernia | Genotype & phenotype | Enzymatic activity | Bone marrow | Genotypes | Age | Enzymes | Phenotypes | Hydrolase | Medical screening | Mucolipidosis | Microencephaly | Arylsulfatase | Birth weight | Phosphotransferase | Mutation | Galactose | Index Medicus
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2014, Volume 112, Issue 2, pp. 160 - 170
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2018, Volume 19, Issue 1, pp. 183 - 183
Journal Article
Journal of Steroid Biochemistry and Molecular Biology, ISSN 0960-0760, 2007, Volume 103, Issue 1, pp. 20 - 34
Journal Article
Journal Article