These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

107 related articles for article (PubMed ID: 21123088)

  • 21. Biotinidase deficiency: an atypical presentation.
    Jagadeesh S; Suresh B; Seshadri S; Suzuki Y
    Natl Med J India; 2013; 26(1):29-30. PubMed ID: 24066991
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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. PubMed ID: 23220796
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A girl with spastic tetraparesis associated with biotinidase deficiency.
    Komur M; Okuyaz C; Ezgu F; Atici A
    Eur J Paediatr Neurol; 2011 Nov; 15(6):551-3. PubMed ID: 21571559
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Biotinidase deficiency.
    Dahiphale R; Jain S; Agrawal M
    Indian Pediatr; 2008 Sep; 45(9):777-9. PubMed ID: 18820388
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Biotinidase deficiency and eye].
    Mrugacz M; Bakunowicz-Łazarczyk A; Sredzińska-Kita D
    Klin Oczna; 2002; 104(3-4):293-4. PubMed ID: 12608322
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan.
    Shoaib M; Faraz A; Ahmed SA; Jamil M; Aijaz Z
    J Ayub Med Coll Abbottabad; 2016; 28(4):821-823. PubMed ID: 28586590
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Biotinidase deficiency: a treatable leukoencephalopathy.
    Grünewald S; Champion MP; Leonard JV; Schaper J; Morris AA
    Neuropediatrics; 2004 Aug; 35(4):211-6. PubMed ID: 15328559
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Biotinidase deficiency with hypertonia as unusual feature.
    Rathi N; Rathi M
    Indian Pediatr; 2009 Jan; 46(1):65-7. PubMed ID: 19179722
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.
    Kardas F; Patiroglu T; Unal E; Chiang SC; Bryceson YT; Kendirci M
    Pediatr Blood Cancer; 2012 Jul; 59(1):191-3. PubMed ID: 22605457
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Biotinidase deficiency: novel mutations in Algerian patients.
    Tiar A; Mekki A; Nagara M; Rhouma FB; Messaoud O; Halim NB; Kefi R; Hamlaoui MT; Lebied A; Abdelhak S
    Gene; 2014 Feb; 536(1):193-6. PubMed ID: 23481307
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
    Thodi G; Molou E; Georgiou V; Loukas YL; Dotsikas Y; Biti S; Papadopoulos K; Konstantinou D; Antoniadi M; Doulgerakis E
    J Hum Genet; 2011 Dec; 56(12):861-5. PubMed ID: 22011816
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns.
    González EC; Marrero N; Frómeta A; Herrera D; Castells E; Pérez PL
    Clin Chim Acta; 2006 Jul; 369(1):35-9. PubMed ID: 16480705
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical utility gene card for: Biotinidase deficiency-update 2015.
    Küry S; Ramaekers V; Bézieau S; Wolf B
    Eur J Hum Genet; 2016 Jul; 24(7):. PubMed ID: 26577040
    [No Abstract]   [Full Text] [Related]  

  • 34. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
    Santer R; Gokçay G; Demirkol M; Gal A; Lukacs Z
    J Inherit Metab Dis; 2005; 28(2):137-40. PubMed ID: 15877202
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Profound biotinidase deficiency in a child with predominantly spinal cord disease.
    Chedrawi AK; Ali A; Al Hassnan ZN; Faiyaz-Ul-Haque M; Wolf B
    J Child Neurol; 2008 Sep; 23(9):1043-8. PubMed ID: 18645204
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Long-term follow-up of hearing loss in biotinidase deficiency.
    Welling DB
    J Child Neurol; 2007 Aug; 22(8):1055. PubMed ID: 17761663
    [No Abstract]   [Full Text] [Related]  

  • 37. [The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening].
    Bay LB; de Pinho S; Eiroa HD; Otegui I; Rodríguez R
    Arch Argent Pediatr; 2010 Feb; 108(1):e13-6. PubMed ID: 20204226
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
    Bousounis DP; Camfield PR; Wolf B
    Neuropediatrics; 1993 Aug; 24(4):214-7. PubMed ID: 8232780
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
    Deschamps R; Savatovsky J; Vignal C; Fisselier M; Imbard A; Wolf B; Procter M; Gout O
    J Neurol Neurosurg Psychiatry; 2018 Sep; 89(9):1009-1010. PubMed ID: 29025919
    [No Abstract]   [Full Text] [Related]  

  • 40. 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. PubMed ID: 21907891
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.