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rhizomelic chondrodysplasia punctata (336) 336
humans (293) 293
biochemistry & molecular biology (143) 143
animals (125) 125
genetics & heredity (103) 103
index medicus (94) 94
pts2 receptor (91) 91
zellweger syndrome (90) 90
male (82) 82
female (76) 76
cell biology (72) 72
mutation (71) 71
peroxisomes - metabolism (67) 67
peroxisomes (66) 66
zellweger-syndrome (65) 65
peroxisome (61) 61
chondrodysplasia punctata, rhizomelic - genetics (60) 60
peroxisomal targeting signal 2 receptor (57) 57
peroxisomal disorders - genetics (56) 56
receptors, cytoplasmic and nuclear - genetics (54) 54
molecular sequence data (53) 53
saccharomyces-cerevisiae (52) 52
human pex7 (48) 48
mice (48) 48
x-linked adrenoleukodystrophy (48) 48
phenotype (47) 47
biosynthesis (45) 45
infant, newborn (45) 45
deficiency (44) 44
amino acid sequence (43) 43
child (43) 43
peroxisomal disorders (43) 43
biogenesis disorders (42) 42
biophysics (41) 41
pediatrics (41) 41
3-ketoacyl-coa thiolase (40) 40
rat-liver peroxisomes (40) 40
base sequence (39) 39
physiological aspects (38) 38
phytanic acid (38) 38
acyl-coa oxidase (37) 37
cells, cultured (37) 37
child, preschool (37) 37
infant (37) 37
peroxisomal disorders - metabolism (37) 37
protein import (36) 36
receptors, cytoplasmic and nuclear - metabolism (36) 36
zellweger syndrome - genetics (35) 35
enzymes (34) 34
fibroblasts (34) 34
targeting signal (34) 34
adult (33) 33
chain fatty-acids (33) 33
fatty acids (33) 33
membrane proteins - genetics (33) 33
microbodies - metabolism (32) 32
oxidation-reduction (32) 32
beta-oxidation (31) 31
adrenoleukodystrophy (30) 30
chondrodysplasia punctata, rhizomelic - metabolism (30) 30
chondrodysplasia punctata, rhizomelic - pathology (29) 29
cricetinae (28) 28
gene (28) 28
membrane proteins - metabolism (27) 27
cell line (26) 26
peroxisome biogenesis disorders (26) 26
proteins (26) 26
biogenesis (25) 25
cho cells (25) 25
clinical neurology (25) 25
neonatal adrenoleukodystrophy (25) 25
chondrodysplasia punctata (24) 24
fatty acids - metabolism (24) 24
functional complementation (24) 24
genetic complementation test (24) 24
microbodies - enzymology (24) 24
peroxisomal disorder (24) 24
adolescent (23) 23
analysis (23) 23
disorders (23) 23
fibroblasts - metabolism (23) 23
genetic aspects (23) 23
neurosciences (23) 23
pts1 receptor (23) 23
chondrodysplasia punctata, rhizomelic - diagnosis (22) 22
endocrinology & metabolism (22) 22
lipids (22) 22
peroxisome-targeting signal 1 receptor (22) 22
peroxisomes - genetics (22) 22
disease (21) 21
identification (21) 21
bifunctional protein-deficiency (20) 20
fatty-acids (20) 20
genotype (20) 20
medicine, research & experimental (20) 20
plasmalogen (20) 20
plasmalogens - biosynthesis (20) 20
refsum-disease (20) 20
genetics (19) 19
peroxisome biogenesis (19) 19
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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2017, Volume 173, Issue 1, pp. 108 - 113
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2017, Volume 30, Issue 8, pp. 889 - 892
Background: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage... 
phytanic acid | rhizomelic chondrodysplasia punctata | gene mutation | PEX7 gene mutation | DISORDERS | PEDIATRICS | ENDOCRINOLOGY & METABOLISM | Homozygote | Phenotype | Humans | Infant | Male | Mutation | Chondrodysplasia Punctata, Rhizomelic - genetics | Peroxisomal Targeting Signal 2 Receptor - genetics | Case studies | Care and treatment | Children | Diagnosis | Diseases
Journal Article
Journal of Perinatal and Neonatal Nursing, ISSN 0893-2190, 2017, Volume 31, Issue 4, pp. 350 - 357
Journal Article
JOURNAL OF PERINATAL & NEONATAL NURSING, ISSN 0893-2190, 10/2017, Volume 31, Issue 4, pp. 350 - 357
Journal Article
Journal Article
Revista chilena de pediatria, 2017, Volume 88, Issue 4, p. 511
Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia... 
Chondrodysplasia Punctata, Rhizomelic - diagnosis | Humans | Fatal Outcome | Infant | Male | Genetic Counseling | Chondrodysplasia Punctata, Rhizomelic - genetics
Journal Article
Journal of lipid research, ISSN 0022-2275, 2012, Volume 53, Issue 4, pp. 653 - 663
Journal Article