X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (259) 259
female (114) 114
male (114) 114
genetics & heredity (107) 107
child (85) 85
child, preschool (72) 72
infant (69) 69
molecular sequence data (62) 62
adolescent (58) 58
medicine, research & experimental (58) 58
biochemistry & molecular biology (56) 56
adult (53) 53
base sequence (51) 51
animals (44) 44
mutation (41) 41
index medicus (33) 33
phenotype (33) 33
pediatrics (32) 32
enzymes (31) 31
enzyme replacement therapy (30) 30
infant, newborn (30) 30
mucopolysaccharidosis iv - genetics (30) 30
article (29) 29
chondroitinsulfatases - genetics (29) 29
fibroblasts (29) 29
amino acid sequence (27) 27
japan (26) 26
polymerase chain reaction (26) 26
gene (25) 25
keratan sulfate (25) 25
deficiency (24) 24
glycosaminoglycans (24) 24
identification (24) 24
mucopolysaccharidosis (24) 24
zellweger syndrome (24) 24
cells, cultured (23) 23
endocrinology & metabolism (22) 22
mucopolysaccharidosis iva (22) 22
immunology (21) 21
disease (20) 20
exons (20) 20
sulfates (19) 19
medicine, general & internal (18) 18
mitochondria - enzymology (18) 18
mutations (18) 18
peroxisomal disorders - genetics (18) 18
point mutation (18) 18
transfection (18) 18
fibroblasts - metabolism (17) 17
mucopolysaccharidoses (17) 17
zellweger syndrome - genetics (17) 17
3-ketothiolase deficiency (16) 16
acetyl-coa c-acetyltransferase - genetics (16) 16
analysis (16) 16
fibroblasts - enzymology (16) 16
gene expression (16) 16
glycosaminoglycans - urine (16) 16
proteins (16) 16
transplantation (16) 16
dna mutational analysis (15) 15
liver - enzymology (15) 15
mass spectrometry (15) 15
pedigree (15) 15
allergy (14) 14
biosynthesis (14) 14
cell line (14) 14
chromosome mapping (14) 14
cricetinae (14) 14
cultured fibroblasts (14) 14
dna (14) 14
expression (14) 14
genetic complementation test (14) 14
hematopoietic stem cells (14) 14
mice (14) 14
microbodies - enzymology (14) 14
tandem mass spectrometry (14) 14
biophysics (13) 13
cho cells (13) 13
dna, complementary - genetics (13) 13
immunoblotting (13) 13
microbodies - metabolism (13) 13
acetyl-coa c-acyltransferase - deficiency (12) 12
acyl-coa oxidase (12) 12
cdna (12) 12
cloning, molecular (12) 12
pregnancy (12) 12
rats (12) 12
stem cells (12) 12
young adult (12) 12
adrenoleukodystrophy (11) 11
bone-marrow-transplantation (11) 11
hematopoietic stem cell transplantation (11) 11
membrane proteins - genetics (11) 11
mucopolysaccharidosis iv - enzymology (11) 11
oxidation-reduction (11) 11
patient (11) 11
stem-cell transplantation (11) 11
beta-oxidation (10) 10
clinical neurology (10) 10
diagnosis (10) 10
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 11/2019, Volume 64, Issue 11, pp. 1153 - 1171
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, which lack an enzyme corresponding to the specific type of MPS. Enzyme replacement... 
ATTENUATES DISEASE PROGRESSION | BONE-MARROW-TRANSPLANTATION | HUMAN ARYLSULFATASE-B | DRUG-DELIVERY SYSTEM | RECEPTOR ANTIBODY | GENETICS & HEREDITY | STEM-CELL TRANSPLANTATION | 2 JAPANESE SIBLINGS | BLOOD-BRAIN-BARRIER | ALPHA-N-ACETYLGLUCOSAMINIDASE | HUNTER-SYNDROME DATA
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S132 - S132
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2019, Volume 126, Issue 3, pp. 238 - 245
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that impair degradation of glycosaminoglycans (GAG). The specific GAGs that accumulate... 
Sponsorship | Guideline | Systematic review | Enzyme replacement therapy | Hematopoietic stem cell transplantation | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | MORQUIO | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | STEM-CELL TRANSPLANTATION | MUCOPOLYSACCHARIDOSIS I
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S113 - S113
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2017, Volume 40, Issue 1, pp. 151 - 158
Background Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressive and usually result in irreversible skeletal, visceral,... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ASSAY | LYSOSOMAL STORAGE DISORDERS | HUMAN SERUM | DRIED BLOOD SPOTS | IVA | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | SULFATE-DERIVED DISACCHARIDES | HEPARAN-SULFATE | ENZYME REPLACEMENT THERAPY | KERATAN SULFATE | Acetylglucosaminidase - blood | Glycosaminoglycans - blood | Polysaccharide-Lyases - metabolism | Chondroitinases and Chondroitin Lyases - metabolism | Polysaccharide-Lyases - blood | Disaccharides - metabolism | Glycosaminoglycans - metabolism | Mucopolysaccharidoses - blood | Mucopolysaccharidoses - metabolism | Humans | Dermatan Sulfate - blood | Neonatal Screening - methods | Heparitin Sulfate - metabolism | Mucopolysaccharidoses - diagnosis | Dermatan Sulfate - metabolism | Pilot Projects | Heparitin Sulfate - blood | Chondroitinases and Chondroitin Lyases - blood | Acetylglucosaminidase - metabolism | Disaccharides - blood | Chromatography, Liquid - methods | Tandem Mass Spectrometry - methods | Infant, Newborn | Measurement | Infants (Newborn) | Analysis | Brain damage | Liquid chromatography | Sulfates | Mass spectrometry | glycosaminoglycans | tandem mass spectrometry | disaccharides | mucopolysaccharidoses | newborn screening
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 5/2018, Volume 124, Issue 1, pp. 1 - 10
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) processing. In MPS, the lysosomes... 
glycosaminoglycans | short stature | mucopolysaccharidoses | lysosomal storage disorders | growth impairment
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S140 - S141
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 05/2018, Volume 124, Issue 1, pp. 1 - 10
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2016, Volume 118, Issue 2, pp. 111 - 122
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 2014, Volume 1, Issue 1, pp. 31 - 41
Mucopolysaccharidosis IVA (MPS IVA) is one of the lysosomal storage diseases. It is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase.... 
GALNS | Bone marrow transplantation | Respiratory function | Bone mineral density | Mucopolysaccharidosis IVA
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2019, Volume 19, p. 100455
Journal Article