PubMed

Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report.

Maillot F, Kraus JP, Lee PJ.

J Med Case Reports. 2008 Apr 20;2:113.PMID: 18423051 [PubMed]Related articlesFree article

Homocystinuria treated with pyridoxine.

Blika S, Saunte E, Lunde H, Gjessing LR, Ringvold A.

Acta Ophthalmol (Copenh). 1982 Dec;60(6):894-906.PMID: 6984997 [PubMed - indexed for MEDLINE]Related articles

Homocystinuria: a rare cause of megaloblastic anemia.

Gomber S, Dewan P, Dua T.

Indian Pediatr. 2004 Sep;41(9):941-3.PMID: 15475638 [PubMed - indexed for MEDLINE]Related articlesFree article

[Late revelation of homocysteinuria: clinical, biological and progressive aspects]

Azzabi S, Barhoumi A, Omar S, Ben Hassine L, Chérif E, Kooli C, Mrad R, Chaabouni H, Kaabachi N, Khalfallah N.

Pathol Biol (Paris). 2009 Jul;57(5):451-5. Epub 2008 Nov 28. French. PMID: 19046831 [PubMed - indexed for MEDLINE]Related articles

Recurrent dystonia in homocystinuria: a metabolic pathogenesis.

Sinclair AJ, Barling L, Nightingale S.

Mov Disord. 2006 Oct;21(10):1780-2.PMID: 16856143 [PubMed - indexed for MEDLINE]Related articles

Familial homocystinuria.

Bilwani F, Syed NA, Usman M, Khurshid M.

J Coll Physicians Surg Pak. 2005 Feb;15(2):106-7.PMID: 15730839 [PubMed - indexed for MEDLINE]Related articles

Different phenotypy in three siblings with homocystinuria.

Varlibas F, Cobanoglu O, Ergin B, Tireli H.

Neurologist. 2009 May;15(3):144-6.PMID: 19430269 [PubMed - indexed for MEDLINE]Related articles

From apneic spells to the development of hypertensive hydrocephalus: a case report of homocystinuria with early onset.

Cerbo RM, Cabano R, Lombardi G, Bollani L, Colombo R, Stronati M.

J Child Neurol. 2010 Mar;25(3):368-70. Epub 2009 Jun 9.PMID: 19509410 [PubMed - in process]Related articles

[A case of familial Crohn's disease observed in a parent and his offspring]

Cho HS, Byun TJ, Ahn SB, Kim TY, Eun CS, Jeon YC, Kim YS, Han DS.

Korean J Gastroenterol. 2008 Oct;52(4):247-50. Korean. PMID: 19077526 [PubMed - indexed for MEDLINE]Related articlesFree article

Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy.

Pierre G, Gissen P, Chakrapani A, McDonald A, Preece M, Wright J.

J Inherit Metab Dis. 2006 Oct;29(5):688-9. Epub 2006 Aug 5. No abstract available. PMID: 16972179 [PubMed - indexed for MEDLINE]Related articles

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B.

Hum Mutat. 2009 Jul;30(7):1072-81.PMID: 19370762 [PubMed - indexed for MEDLINE]Related articles

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

Bishop L, Kanoff R, Charnas L, Krenzel C, Berry SA, Schimmenti LA.

J Child Neurol. 2008 Jul;23(7):823-8.PMID: 18658082 [PubMed - indexed for MEDLINE]Related articles

An undiagnosed bilateral anterior shoulder dislocation after a seizure: a case report.

Lasanianos N, Mouzopoulos G.

Cases J. 2008 Nov 21;1(1):342.PMID: 19025598 [PubMed - in process]Related articlesFree article

Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.

Miyadera K, Kato K, Aguirre-Hernández J, Tokuriki T, Morimoto K, Busse C, Barnett K, Holmes N, Ogawa H, Sasaki N, Mellersh CS, Sargan DR.

Mol Vis. 2009 Nov 11;15:2287-305.PMID: 19936303 [PubMed - indexed for MEDLINE]Related articlesFree article

Assessment of "gene-environment" interaction in cases of familial and sporadic pancreatic cancer.

Yeo TP, Hruban RH, Brody J, Brune K, Fitzgerald S, Yeo CJ.

J Gastrointest Surg. 2009 Aug;13(8):1487-94. Epub 2009 May 21.PMID: 19459017 [PubMed - indexed for MEDLINE]Related articles

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.

Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr.

Eur J Pediatr. 2009 Jun;168(6):697-704. Epub 2008 Sep 2.PMID: 18762976 [PubMed - indexed for MEDLINE]Related articles

E449X mutation in the thyroid hormone receptor beta associated with autoimmune thyroid disease and severe neuropsychomotor involvement.

Gurgel MH, Montenegro Junior RM, Magalhaes RA, Lima GE, Montenegro RM, Magalhães PK, Maciel LM.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1205-10.PMID: 19169471 [PubMed - indexed for MEDLINE]Related articlesFree article

[Drawing up guidelines for the attendance of physical health of patients with severe mental illness]

Saravane D, Feve B, Frances Y, Corruble E, Lancon C, Chanson P, Maison P, Terra JL, Azorin JM; avec le soutien institutionnel du laboratoire Lilly.

Encephale. 2009 Sep;35(4):330-9. Epub 2009 Jul 9. French. PMID: 19748369 [PubMed - indexed for MEDLINE]Related articles

The genetics of depression in childhood and adolescence.

Rice F.

Curr Psychiatry Rep. 2009 Apr;11(2):167-73. Review.PMID: 19302772 [PubMed - indexed for MEDLINE]Related articles

Virologic characteristics of hepatitis B virus in patients infected via maternal-fetal transmission.

Shen T, Yan XM, Zou YL, Gao JM, Dong H.

World J Gastroenterol. 2008 Oct 7;14(37):5674-82.PMID: 18837083 [PubMed - indexed for MEDLINE]Related articlesFree article