X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (849) 849
homocystinuria (488) 488
female (439) 439
male (417) 417
homocystinuria - diagnosis (412) 412
child (263) 263
adult (261) 261
homocysteine (230) 230
homocystinuria - complications (218) 218
homocystinuria - genetics (204) 204
infant, newborn (201) 201
child, preschool (192) 192
adolescent (190) 190
pediatrics (189) 189
genetics & heredity (169) 169
infant (160) 160
mutation (135) 135
diagnosis, differential (120) 120
homocysteine - blood (108) 108
homocystinuria - drug therapy (97) 97
metabolism (94) 94
diagnosis (92) 92
medicine & public health (92) 92
endocrinology & metabolism (89) 89
middle aged (88) 88
amino acid metabolism, inborn errors - diagnosis (87) 87
clinical neurology (83) 83
deficiency (76) 76
medicine, research & experimental (72) 72
methionine (72) 72
phenotype (70) 70
pregnancy (67) 67
internal medicine (66) 66
homocystinuria - therapy (63) 63
methionine - blood (63) 63
medicine, general & internal (60) 60
homocystinuria - blood (58) 58
hyperhomocysteinemia (58) 58
cystathionine beta-synthase - deficiency (56) 56
cystathionine beta-synthase - genetics (56) 56
homocystinuria - metabolism (56) 56
methylmalonic acid - urine (56) 56
risk factors (56) 56
magnetic resonance imaging (54) 54
metabolism, inborn errors - diagnosis (54) 54
thrombosis (54) 54
disease (53) 53
methylmalonic aciduria (53) 53
children (52) 52
mutations (52) 52
treatment outcome (52) 52
vitamin b 12 - metabolism (52) 52
carrier proteins - genetics (50) 50
methylenetetrahydrofolate reductase (49) 49
pyridoxine - therapeutic use (48) 48
biochemistry, general (47) 47
cystathionine beta-synthase (47) 47
marfan syndrome - diagnosis (47) 47
metabolic diseases (47) 47
phenylketonurias - diagnosis (46) 46
betaine (45) 45
aged (44) 44
homocystinuria - epidemiology (44) 44
human genetics (43) 43
methylenetetrahydrofolate reductase - deficiency (43) 43
vitamin b 12 deficiency - diagnosis (43) 43
cobalamin (42) 42
combined methylmalonic aciduria (42) 42
homocystinuria - enzymology (42) 42
neonatal screening (42) 42
ophthalmology (42) 42
young adult (42) 42
amino acids (40) 40
animals (40) 40
dna mutational analysis (40) 40
gene (40) 40
amino acid metabolism, inborn errors - genetics (39) 39
beta-synthase deficiency (39) 39
brain - pathology (39) 39
cblc (38) 38
enzymes (38) 38
prevalence (38) 38
vitamin b 12 deficiency - congenital (38) 38
folic acid - therapeutic use (37) 37
follow-up studies (37) 37
genetic aspects (37) 37
mass screening (37) 37
methionine - metabolism (37) 37
patients (37) 37
vitamin b12 (37) 37
folic acid (36) 36
urine (36) 36
analysis (35) 35
heterozygote (35) 35
homocystinuria - physiopathology (35) 35
maple syrup urine disease - diagnosis (35) 35
biochemistry & molecular biology (34) 34
homocystinuria - etiology (34) 34
physiological aspects (34) 34
genotype (33) 33
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (859) 859
French (48) 48
German (44) 44
Spanish (15) 15
Italian (13) 13
Japanese (10) 10
Russian (9) 9
Croatian (5) 5
Chinese (4) 4
Dutch (4) 4
Czech (3) 3
Norwegian (3) 3
Polish (3) 3
Danish (2) 2
Hebrew (1) 1
Persian (1) 1
Portuguese (1) 1
Serbian (1) 1
Swedish (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Inherited Metabolic Disease, ISSN 1573-2665, 2016, Volume 40, Issue 1, pp. 21 - 48
Journal Article
Journal Article
Medical Journal of Australia, ISSN 0025-729X, 06/2006, Volume 184, Issue 12, pp. 627 - 631
Journal Article
Ophthalmology, ISSN 0161-6420, 2014, Volume 121, Issue 1, pp. 381 - 386
Journal Article
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 3, pp. 571 - 582
Purpose To explore the ocular manifestations of cobalamin C ( cblC ) deficiency, an inborn error of intracellular vitamin B12 metabolism. Design Retrospective,... 
Ophthalmology | RETINAL DEGENERATION | HOMOCYSTINURIA CBLC | HOMOCYSTEINE | DRUG-DELIVERY | CBLC-TYPE | DEFECT | OPHTHALMOLOGY | CLINICAL HETEROGENEITY | NATURAL-HISTORY | COMBINED METHYLMALONIC ACIDURIA | CHILDREN | Optical Imaging | Follow-Up Studies | Humans | Nystagmus, Pathologic - genetics | Optic Nerve Diseases - diagnosis | Child, Preschool | Strabismus - genetics | Macular Degeneration - diagnosis | Macular Degeneration - drug therapy | Homocystinuria - physiopathology | Adult | Retrospective Studies | Child | Nystagmus, Pathologic - drug therapy | Visual Acuity - physiology | Hydroxocobalamin - therapeutic use | Electroretinography | Strabismus - physiopathology | Homocystinuria - drug therapy | Macular Degeneration - physiopathology | Optic Nerve Diseases - physiopathology | Tomography, Optical Coherence | Vitamin B 12 Deficiency - diagnosis | Vitamin B Complex - therapeutic use | Strabismus - diagnosis | Vitamin B 12 Deficiency - physiopathology | Injections, Intramuscular | Nystagmus, Pathologic - physiopathology | Vitamin B 12 Deficiency - drug therapy | Vitamin B 12 Deficiency - congenital | Disease Progression | Optic Nerve Diseases - drug therapy | Optic Nerve Diseases - genetics | Carrier Proteins - genetics | Phenotype | Macular Degeneration - genetics | Nystagmus, Pathologic - diagnosis | Adolescent | Vitamin B 12 Deficiency - genetics | Strabismus - drug therapy | Homocystinuria - diagnosis | Homocystinuria - genetics | Biopolymers | Genomics
Journal Article