207 related articles for article (PubMed ID: 25939413)
1. Acute psychosis in an adolescent with undiagnosed homocystinuria.
Colafrancesco G; Di Marzio GM; Abbracciavento G; Stoppioni V; Leuzzi V; Ferrara M
Eur J Pediatr; 2015 Sep; 174(9):1263-6. PubMed ID: 25939413
[TBL] [Abstract][Full Text] [Related]
2. Homocystinuria presenting as psychosis in an adolescent.
Ryan MM; Sidhu RK; Alexander J; Megerian JT
J Child Neurol; 2002 Nov; 17(11):859-60. PubMed ID: 12585732
[TBL] [Abstract][Full Text] [Related]
3. A forgotten lethal psychosis: a case report.
Hidalgo Mazzei D; Martín Rodriguez S; Pérez Moltó H; Ruíz Izquierdo J; Baeza I
Eur Child Adolesc Psychiatry; 2014 Apr; 23(4):235-8. PubMed ID: 23812867
[TBL] [Abstract][Full Text] [Related]
4. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Karaca M; Hismi B; Ozgul RK; Karaca S; Yilmaz DY; Coskun T; Sivri HS; Tokatli A; Dursun A
Gene; 2014 Jan; 534(2):197-203. PubMed ID: 24211323
[TBL] [Abstract][Full Text] [Related]
5. A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
Sarov M; Not A; de Baulny HO; Masnou P; Vahedi K; Bousser MG; Denier C
J Neurol Sci; 2014 Jan; 336(1-2):257-9. PubMed ID: 24169224
[TBL] [Abstract][Full Text] [Related]
6. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.
Cruysberg JR; Boers GH; Trijbels JM; Deutman AF
BMJ; 1996 Oct; 313(7064):1037-40. PubMed ID: 8898592
[TBL] [Abstract][Full Text] [Related]
7. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
Kluijtmans LA; Boers GH; Kraus JP; van den Heuvel LP; Cruysberg JR; Trijbels FJ; Blom HJ
Am J Hum Genet; 1999 Jul; 65(1):59-67. PubMed ID: 10364517
[TBL] [Abstract][Full Text] [Related]
8. Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Hua N; Ning Y; Zheng H; Zhao L; Qian X; Wormington C; Wang J
BMC Ophthalmol; 2021 May; 21(1):212. PubMed ID: 33985475
[TBL] [Abstract][Full Text] [Related]
9. Classical familial homocystinuria in an adult presenting as an isolated lens subluxation.
Martínez-Gutiérrez JD; Mencía-Gutiérrez E; Gracia-García-Miguel T; Gutiérrez-Díaz E; López-Tizón E
Int Ophthalmol; 2011 Jun; 31(3):227-32. PubMed ID: 21626167
[TBL] [Abstract][Full Text] [Related]
10. Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.
Yap S; Naughten E
J Inherit Metab Dis; 1998 Oct; 21(7):738-47. PubMed ID: 9819703
[TBL] [Abstract][Full Text] [Related]
11. Atypical presentation of ectopia lentis in homocystinuria.
Hafidi Z; Berradi S; Handor H; Regragui A; Lezrek M; Daoudi R
J Pediatr; 2015 Apr; 166(4):1091. PubMed ID: 25662830
[No Abstract] [Full Text] [Related]
12. The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Yap S; Rushe H; Howard PM; Naughten ER
J Inherit Metab Dis; 2001 Aug; 24(4):437-47. PubMed ID: 11596648
[TBL] [Abstract][Full Text] [Related]
13. Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
Tröndle U; Sunder-Plassmann G; Burgmann H; Buchmayer H; Kramer L; Bieglmayer C; Hörl WH; Födinger M
Acta Med Austriaca; 2001; 28(5):145-51. PubMed ID: 11774777
[TBL] [Abstract][Full Text] [Related]
14. Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V; Sokolová J; Morris AAM; Pavlíková M; Gleich F; Kölker S; Krijt J; Dionisi-Vici C; Baumgartner MR; Blom HJ; Huemer M;
J Inherit Metab Dis; 2021 May; 44(3):677-692. PubMed ID: 33295057
[TBL] [Abstract][Full Text] [Related]
15. The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective.
Shafique M; Muzaffar W; Ishaq M
Int Ophthalmol; 2016 Feb; 36(1):79-83. PubMed ID: 25982157
[TBL] [Abstract][Full Text] [Related]
16. Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
Alcaide P; Krijt J; Ruiz-Sala P; Ješina P; Ugarte M; Kožich V; Merinero B
Clin Chim Acta; 2015 Jan; 438():261-5. PubMed ID: 25218699
[TBL] [Abstract][Full Text] [Related]
17. Homocystinuria presenting as sagittal sinus thrombosis.
Cochran FB; Packman S
Eur Neurol; 1992; 32(1):1-3. PubMed ID: 1563447
[TBL] [Abstract][Full Text] [Related]
18. Homocystinuria in Thai patient--Phramongkutklao Hospital experience.
Panthawasit J; Boonyawat B; Boonyavarakul A; Kamolsilp M; Suthijamroon A
J Med Assoc Thai; 2005 Nov; 88 Suppl 3():S257-62. PubMed ID: 16858966
[TBL] [Abstract][Full Text] [Related]
19. The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Mudd SH; Skovby F; Levy HL; Pettigrew KD; Wilcken B; Pyeritz RE; Andria G; Boers GH; Bromberg IL; Cerone R
Am J Hum Genet; 1985 Jan; 37(1):1-31. PubMed ID: 3872065
[TBL] [Abstract][Full Text] [Related]
20. Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency.
Gerding H
Eur J Pediatr; 1998 Apr; 157 Suppl 2():S94-101. PubMed ID: 9587034
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
