X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (8) 8
cystinuria (7) 7
male (7) 7
female (6) 6
index medicus (5) 5
adult (4) 4
amino acids (4) 4
mutation (4) 4
patients (4) 4
aminoaciduria, renal (3) 3
cystinuria - complications (3) 3
cystinuria - genetics (3) 3
cystinuria - therapy (3) 3
middle aged (3) 3
urine (3) 3
aged (2) 2
amino acid transport systems, basic - genetics (2) 2
arginine - urine (2) 2
biochemistry, general (2) 2
biomedicine (2) 2
breastfeeding & lactation (2) 2
cystine (2) 2
cystinuria - physiopathology (2) 2
cystinuria - psychology (2) 2
endocrinology & metabolism (2) 2
genes (2) 2
hypotonia (2) 2
infant (2) 2
kidney stones (2) 2
lysine - urine (2) 2
metabolic diseases (2) 2
metabolism (2) 2
neurology (2) 2
neurosciences (2) 2
oncology (2) 2
physiology (2) 2
quality of life (2) 2
surveys and questionnaires (2) 2
urology & nephrology (2) 2
administration, oral (1) 1
amino acid substitution (1) 1
amino acid transport systems, basic (1) 1
amino acid transport systems, neutral - genetics (1) 1
amino acids - metabolism (1) 1
analysis (1) 1
arthur d. smith, md (1) 1
australia (1) 1
breast milk (1) 1
calculi (1) 1
calculi, urinary (1) 1
captopril (1) 1
cardiology (1) 1
cardiomyopathy (1) 1
cardiomyopathy, dilated - genetics (1) 1
cardiomyopathy, dilated - physiopathology (1) 1
care and treatment (1) 1
carrier proteins - genetics (1) 1
case studies (1) 1
case-control studies (1) 1
cerebellar ataxia (1) 1
cerebellar ataxia - complications (1) 1
cerebellar ataxia - genetics (1) 1
chelating agents - adverse effects (1) 1
chelating agents - therapeutic use (1) 1
child, preschool (1) 1
chromosome banding (1) 1
chromosome deletion (1) 1
chromosomes, human, pair 19 - genetics (1) 1
chromosomes, human, pair 21 - genetics (1) 1
cohort studies (1) 1
consultants (1) 1
craniofacial abnormalities - genetics (1) 1
craniofacial abnormalities - physiopathology (1) 1
cysteine (1) 1
cystine - metabolism (1) 1
cystinuria - diagnosis (1) 1
cystinuria - metabolism (1) 1
cystinuria - urine (1) 1
d -penicillamine (1) 1
d-penicillamine (1) 1
defects (1) 1
deletion (1) 1
dementia (1) 1
dementia - complications (1) 1
dementia - genetics (1) 1
depression (1) 1
developmental delay (1) 1
diet (1) 1
diet, sodium-restricted (1) 1
dietary intake (1) 1
dilated cardiomyopathy (1) 1
drug dosages (1) 1
d‐penicillamine (1) 1
family health (1) 1
festschrift (1) 1
gene deletion (1) 1
genetic aspects (1) 1
genetic research (1) 1
genotype & phenotype (1) 1
glutamine (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Metabolic Brain Disease, ISSN 0885-7490, 8/2018, Volume 33, Issue 4, pp. 1375 - 1379
Journal Article
Practical Neurology, ISSN 1474-7758, 08/2016, Volume 16, Issue 4, pp. 296 - 299
Cystinuria normally manifests as recurrent urinary stones and renal dysfunction, but can present to neurologists with ataxia, posterior column impairment,... 
Amino Acid Transport Systems, Basic - genetics | Cerebellar Ataxia - complications | Cerebellar Ataxia - genetics | Dementia - complications | Cystinuria - complications | Humans | Adult | Male | Mutation | Dementia - genetics | Case studies | Kidney failure | Cerebellar ataxia | Research | Risk factors | Aminoaciduria, Renal | Dementia
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/1986, Volume 315, Issue 18, pp. 1120 - 1123
We studied four patients with cystinuria to assess the effects of glutamine and dietary sodium on the urinary excretion of dibasic amino acids. In Patient 1,... 
Cystinuria - therapy | Lysine - urine | Administration, Oral | Cystinuria - urine | Humans | Middle Aged | Male | Glutamine - administration & dosage | Diet, Sodium-Restricted | Glutamine - therapeutic use | Adult | Female | Ornithine - urine | Arginine - urine | Urine | Medicine | Statistical analysis | Internal medicine | Diet | Sodium | Amino acids | Physiology | Dietary intake | Patients | Drug dosages
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/1986, Volume 315, Issue 18, pp. 1155 - 1157
Cystinuria is an old medical topic. 1 While Napoleon and Wellington were preoccupied with the Peninsular War, Wollaston characterized the "cystic oxide" he... 
Amino Acids - metabolism | Cystinuria - therapy | Cystinuria - metabolism | Humans | Urine | Genotype & phenotype | Physicians | Genes | Homeostasis | Amino acids | Mutation | Metabolism | Patients | Consultants
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/1980, Volume 302, Issue 4, p. 236
Intravenously administered glutamine decreases cystine excretion in 43 to 47 per cent within two hours of infusion. [...]treatment with 2 g of L-glutamine by... 
Urine | Cystinuria | Patients | Glutamine
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 12/1983, Volume 309, Issue 22, p. 1388
To the Editor: Patients with cystinuria have defective renal tubular reabsorption of the dibasic amino acids cystine, arginine, ornithine, and lysine.1 They... 
Breastfeeding & lactation | Amino acids | Cystinuria | Breast milk | Defects
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/1984, Volume 310, Issue 20, p. 1332
The dibasic-amino acid transport system moves substrates from the mucosal to the serosal sides of renal and intestinal epithelia, since the amino acids are... 
Plasma | Breastfeeding & lactation | Amino acids | Physiology | Standard deviation | Metabolism | Cystinuria | Patients | Milk
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.