X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
cystinosin (34) 34
cystinosis (22) 22
humans (18) 18
nephropathic cystinosis (18) 18
gene (14) 14
ctns mutations (11) 11
cystinosis - genetics (11) 11
index medicus (11) 11
urology & nephrology (10) 10
protein (9) 9
amino acid transport systems, neutral (8) 8
membrane proteins - genetics (8) 8
membrane transport proteins (8) 8
child (7) 7
cysteamine (7) 7
genetics & heredity (7) 7
glycoproteins (7) 7
adolescent (6) 6
animals (6) 6
biochemistry & molecular biology (6) 6
ctns gene (6) 6
pediatrics (6) 6
amino acid transport systems, neutral - genetics (5) 5
ctns (5) 5
fanconi syndrome (5) 5
lysosomes - metabolism (5) 5
molecular sequence data (5) 5
mutation (5) 5
adult (4) 4
base sequence (4) 4
cysteamine - therapeutic use (4) 4
cysteamine therapy (4) 4
cystine transporter (4) 4
dna mutational analysis (4) 4
gene deletion (4) 4
lysosomes (4) 4
male (4) 4
renal fanconi syndrome (4) 4
transport (4) 4
amino acid sequence (3) 3
cell biology (3) 3
child, preschool (3) 3
children (3) 3
cysteine (3) 3
cystinosis - etiology (3) 3
cystinosis - physiopathology (3) 3
deletion (3) 3
exons (3) 3
female (3) 3
fibroblasts (3) 3
founder effect (3) 3
genetic disorders (3) 3
genotype (3) 3
growth (3) 3
identification (3) 3
infant (3) 3
jordan (3) 3
life sciences (3) 3
lysosomal storage disease (3) 3
lysosomal storage disorder (3) 3
medicine & public health (3) 3
membrane proteins - chemistry (3) 3
mice (3) 3
middle east (3) 3
phenotype (3) 3
proteins (3) 3
transporter (3) 3
57-kb deletion (2) 2
age factors (2) 2
amino acid transport systems, neutral - metabolism (2) 2
biochemistry, molecular biology (2) 2
cells, cultured (2) 2
chromosome mapping (2) 2
cistinosina (2) 2
cistinosis nefropática (2) 2
corneal crystals (2) 2
cystine (2) 2
cystine - metabolism (2) 2
cystinosis - diagnosis (2) 2
cystinosis - drug therapy (2) 2
cystinosis - pathology (2) 2
cystinosis - therapy (2) 2
dna - chemistry (2) 2
dna - genetics (2) 2
endocytosis (2) 2
europe (2) 2
fanconi syndrome - drug therapy (2) 2
fanconi-syndrome (2) 2
genetic aspects (2) 2
genetics (2) 2
glutathione (2) 2
increased apoptosis (2) 2
integral membrane-protein (2) 2
jordania (2) 2
kidney (2) 2
kidney failure, chronic - etiology (2) 2
lysosome (2) 2
membrane proteins - metabolism (2) 2
membrane-protein (2) 2
mutaciones en el gen ctns (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, ISSN 0931-0509, 09/2018, Volume 33, Issue 9, pp. 1525 - 1532
Background. Bone impairment is a poorly described complication of nephropathic cystinosis (NC). The objectives of this study were to evaluate in vitro effects... 
nephropathic cystinosis | CYSTEAMINE TOXICITY | UROLOGY & NEPHROLOGY | bone | cysteamine | osteoclast | cystinosin | TRANSPLANTATION | Life Sciences | Human health and pathology | Urology and Nephrology
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 157 - 160
Background: Ocular cystinosis is a rare autosomal recessive disorder caused by one severe and one mild mutation in the CTNS gene. It is characterised by... 
cystinosin | Autosomal recessive | cystinosis | TRANSPORT | GENE | GENETICS & HEREDITY | PHENOTYPE | OPHTHALMOLOGY | ADULT
Journal Article
Kidney International, ISSN 0085-2538, 06/2016, Volume 89, Issue 6, pp. 1192 - 1203
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 2014, Volume 55, Issue 8, pp. 1730 - 1737
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 2011, Volume 26, Issue 2, pp. 205 - 215
Journal Article
Nefrología, ISSN 0211-6995, 11/2015, Volume 35, Issue 6, pp. 547 - 553
Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in... 
Middle East | CTNS mutations | Nephropathic cystinosis | Jordan | Cystinosin
Journal Article
Journal Article
NEFROLOGÍA, ISSN 0211-6995, 11/2015, Volume 35, Issue 6, pp. 547 - 553
Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several... 
Middle East | CTNS mutations | Cistinosis nefropática | Cistinosina | Nephropathic cystinosis | Jordan | Oriente Medio | Mutaciones en el gen CTNS | Jordania | Cystinosin
Journal Article
Turkish Journal of Pediatrics, ISSN 0041-4301, 2016, Volume 58, Issue 4, pp. 362 - 370
We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular... 
Cystinosis | Mutations | CTNS | Fanconi syndrome | Cystinosin | CTNS MUTATIONS | cystinosis | mutations | GENE | PEDIATRICS | NEPHROPATHIC CYSTINOSIS | cystinosin | Humans | Child, Preschool | Cystinosis - genetics | Genotype | Infant | Male | Amino Acid Transport Systems, Neutral - genetics | Young Adult | Phenotype | Turkey | Pedigree | Adolescent | Female | Mutation | Child
Journal Article
NEFROLOGIA (English Edition), ISSN 2013-2514, 11/2015, Volume 35, Issue 6, pp. 547 - 553
Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several... 
Middle East | CTNS mutations | Cistinosis nefropática | Cistinosina | Nephropathic cystinosis | Jordan | Oriente Medio | Mutaciones en el gen CTNS | Jordania | Cystinosin | ORIGIN | PROTEIN | MUTATIONAL SPECTRUM | 57-KB DELETION | UROLOGY & NEPHROLOGY | IDENTIFICATION | REGION
Journal Article