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Journal Abstract Search
488 related items for PubMed ID: 22605457
1. 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 15; 59(1):191-3. PubMed ID: 22605457 [Abstract] [Full Text] [Related]
2. Biotinidase deficiency with hypertonia as unusual feature. Rathi N, Rathi M. Indian Pediatr; 2009 Jan 15; 46(1):65-7. PubMed ID: 19179722 [Abstract] [Full Text] [Related]
3. Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. Afroze B, Wasay M. J Coll Physicians Surg Pak; 2013 Nov 15; 23(10):823-5. PubMed ID: 24169397 [Abstract] [Full Text] [Related]
5. [Hemophagocytic lymphohistiocytosis: diagnostic problems in pediatrics]. Balwierz W, Czogała M, Pawińska-Wasikowska K, Cwiklińska M, Walicka-Soja K. Przegl Lek; 2010 Sep 15; 67(6):417-24. PubMed ID: 21344773 [Abstract] [Full Text] [Related]
6. A case of partial biotinidase deficiency associated with autism. Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tatò L. Child Neuropsychol; 2003 Sep 15; 9(3):184-8. PubMed ID: 13680408 [Abstract] [Full Text] [Related]
7. [Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]. Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M. Med Clin (Barc); 2011 Oct 22; 137(11):500-3. PubMed ID: 21752405 [Abstract] [Full Text] [Related]
8. A girl with spastic tetraparesis associated with biotinidase deficiency. Komur M, Okuyaz C, Ezgu F, Atici A. Eur J Paediatr Neurol; 2011 Nov 22; 15(6):551-3. PubMed ID: 21571559 [Abstract] [Full Text] [Related]
9. Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. Guliyeva U, Okur I, Dulac O, Khalilov O, Guliyeva S. Neuropediatrics; 2018 Dec 22; 49(6):417-418. PubMed ID: 30001564 [No Abstract] [Full Text] [Related]
10. Eastern equine encephalitis virus infection and hemophagocytic lymphohistiocytosis in a 5-month-old infant. Mancao MY, Imran H, Chandra S, Estrada B, Figarola M, Sosnowski J, Vidal R. Pediatr Infect Dis J; 2009 Jun 22; 28(6):543-5. PubMed ID: 19483523 [Abstract] [Full Text] [Related]
11. [Biotinidase deficiency: the two faces of metabolic screening]. Pintos-Morell G. Med Clin (Barc); 2011 Oct 22; 137(11):497-9. PubMed ID: 21764085 [No Abstract] [Full Text] [Related]
12. Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE. Hum Mutat; 2005 Apr 22; 25(4):413. PubMed ID: 15776412 [Abstract] [Full Text] [Related]
13. [Hemophagocytic lymphohistiocytosis--a contemporary medical problem]. Machaczka M. Pol Merkur Lekarski; 2012 Jan 22; 32(187):59-63. PubMed ID: 22400183 [Abstract] [Full Text] [Related]
14. Biotinidase deficiency characterized by skin and hair findings. Yang Y, Yang JY, Chen XJ. Clin Dermatol; 2020 Jan 22; 38(4):477-483. PubMed ID: 32972606 [Abstract] [Full Text] [Related]
15. Hemophagocytic lymphohistiocytosis: when the immune system runs amok. Janka G. Klin Padiatr; 2009 Sep 22; 221(5):278-85. PubMed ID: 19707989 [Abstract] [Full Text] [Related]
17. Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia. Tanzer F, Sancaktar M, Buyukkayhan D. J Pediatr Endocrinol Metab; 2009 Dec 22; 22(12):1113-6. PubMed ID: 20333870 [Abstract] [Full Text] [Related]