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Items: 1 to 20 of 85

1.

Ohtahara syndrome with biotinidase deficiency.

Singhi P, Ray M.

J Child Neurol. 2011 Apr;26(4):507-9. doi: 10.1177/0883073810383018. Epub 2010 Nov 29.

PMID:
21115748
2.

[Epileptic encephalopathy due to partial biotinidase deficiency].

Lafuente-Hidalgo M, Ranz Angulo R, López Pisón J, Pérez Delgado R, Monge Galindo L, Peña Segura JL, García Jiménez I, Baldellou Vázquez A.

An Pediatr (Barc). 2010 Mar;72(3):227-8. doi: 10.1016/j.anpedi.2009.10.015. Epub 2010 Feb 18. Spanish. No abstract available.

3.

Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.

Krishnakumar D, Maw A, Brown R, Hogg S, Calvin J, Parker AP.

J Child Neurol. 2014 Jan;29(1):93-5. doi: 10.1177/0883073812467507. Epub 2012 Dec 6.

PMID:
23220796
4.

Biotinidase deficiency: a treatable leukoencephalopathy.

Grünewald S, Champion MP, Leonard JV, Schaper J, Morris AA.

Neuropediatrics. 2004 Aug;35(4):211-6.

PMID:
15328559
5.

Biotinidase deficiency: a treatable genetic disorder in the Saudi population.

Joshi S, al-Essa MA, Archibald A, Ozand PT.

East Mediterr Health J. 1999 Nov;5(6):1213-7.

PMID:
11924114
6.

Biotinidase deficiency in childhood.

Venkataraman V, Balaji P, Panigrahi D, Jamal R.

Neurol India. 2013 Jul-Aug;61(4):411-3. doi: 10.4103/0028-3886.117614.

7.

Biotin responsive seizures and encephalopathy due to biotinidase deficiency.

Joshi SN, Fathalla M, Koul R, Maney MA, Bayoumi R.

Neurol India. 2010 Mar-Apr;58(2):323-4. doi: 10.4103/0028-3886.63783. No abstract available.

8.

A case of partial biotinidase deficiency associated with autism.

Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tatò L.

Child Neuropsychol. 2003 Sep;9(3):184-8.

PMID:
13680408
9.

Biotinidase deficiency.

Dahiphale R, Jain S, Agrawal M.

Indian Pediatr. 2008 Sep;45(9):777-9.

PMID:
18820388
10.

Biotinidase deficiency: an atypical presentation.

Jagadeesh S, Suresh B, Seshadri S, Suzuki Y.

Natl Med J India. 2013 Jan-Feb;26(1):29-30.

PMID:
24066991
11.

[Biotinidase deficiency--a case report].

Mrugacz M, Bakunowicz-Łazarczyk A.

Klin Oczna. 2002;104(3-4):264-5. Polish.

PMID:
12608316
12.

Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).

Fusco L, Pachatz C, Di Capua M, Vigevano F.

Brain Dev. 2001 Nov;23(7):708-14.

PMID:
11701283
13.

Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.

Raha S, Udani V.

Pediatr Neurol. 2011 Oct;45(4):261-4. doi: 10.1016/j.pediatrneurol.2011.06.010. Review.

PMID:
21907891
14.

A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency.

Seo JH, Lee YM, Lee JS, Kim SH, Kim HD.

Brain Dev. 2010 Mar;32(3):253-7. doi: 10.1016/j.braindev.2008.12.020. Epub 2009 Feb 23.

PMID:
19233577
15.

Audiologic findings in children with biotinidase deficiency in Turkey.

Genc GA, Sivri-Kalkanoğlu HS, Dursun A, Aydin HI, Tokatli A, Sennaroglu L, Belgin E, Wolf B, Coşkun T.

Int J Pediatr Otorhinolaryngol. 2007 Feb;71(2):333-9. Epub 2006 Dec 11.

PMID:
17161472
16.

Early infantile epileptic encephalopathy with unusual favourable outcome.

Cazorla MR, Verdú A, Montes C, Ayuga F.

Brain Dev. 2010 Sep;32(8):673-6. doi: 10.1016/j.braindev.2009.08.007. Epub 2009 Sep 19.

PMID:
19767162
17.

Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients.

Yang Y, Li C, Qi Z, Xiao J, Zhang Y, Yamaguchi S, Hasegawa Y, Tagami Y, Jiang Y, Xiong H, Zhang Y, Qin J, Wu XR.

J Child Neurol. 2007 Feb;22(2):156-60.

PMID:
17621476
18.

[Biotinidase deficiency. Progressive encephalopathy curable with biotin].

Héron B, Gautier A, Dulac O, Ponsot G.

Arch Fr Pediatr. 1993 Dec;50(10):875-8. French.

PMID:
8053766
19.

Two unusual clinical and radiological presentations of biotinidase deficiency.

Mc Sweeney N, Grunewald S, Bhate S, Ganesan V, Chong WK, Hemingway C.

Eur J Paediatr Neurol. 2010 Nov;14(6):535-8. doi: 10.1016/j.ejpn.2010.01.001. Epub 2010 Feb 12.

PMID:
20153672
20.

Biotinidase deficiency with hypertonia as unusual feature.

Rathi N, Rathi M.

Indian Pediatr. 2009 Jan;46(1):65-7.

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