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 *

240 related articles for article (PubMed ID: 22241090)

  • 1. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".
    Wolf B
    Genet Med; 2012 Jun; 14(6):565-75. PubMed ID: 22241090
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biotinidase deficiency and our champagne legacy.
    Wolf B
    Gene; 2016 Sep; 589(2):142-50. PubMed ID: 26456103
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Technical standards and guidelines for the diagnosis of biotinidase deficiency.
    Cowan TM; Blitzer MG; Wolf B;
    Genet Med; 2010 Jul; 12(7):464-70. PubMed ID: 20539236
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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; 137(11):500-3. PubMed ID: 21752405
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
    Yılmaz B; Ceylan AC; Gündüz M; Ünal Uzun Ö; Küçükcongar Yavaş A; Bilginer Gürbüz B; Öncül Ü; Güleç Ceylan G; Kasapkara ÇS
    Eur J Pediatr; 2024 Mar; 183(3):1341-1351. PubMed ID: 38141137
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Forty-eight novel mutations causing biotinidase deficiency.
    Procter M; Wolf B; Mao R
    Mol Genet Metab; 2016 Mar; 117(3):369-72. PubMed ID: 26810761
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Neuroimaging Features of Biotinidase Deficiency.
    Biswas A; McNamara C; Gowda VK; Gala F; Sudhakar S; Sidpra J; Vari MS; Striano P; Blaser S; Severino M; Batzios S; Mankad K
    AJNR Am J Neuroradiol; 2023 Mar; 44(3):328-333. PubMed ID: 36759144
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Profound biotinidase deficiency: a rare disease among native Swedes.
    Ohlsson A; Guthenberg C; Holme E; von Döbeln U
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S175-80. PubMed ID: 20224900
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Analysis of mutations causing biotinidase deficiency.
    Pindolia K; Jordan M; Wolf B
    Hum Mutat; 2010 Sep; 31(9):983-91. PubMed ID: 20556795
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.
    Li H; Spencer L; Nahhas F; Miller J; Fribley A; Feldman G; Conway R; Wolf B
    Mol Genet Metab; 2014 Jul; 112(3):242-6. PubMed ID: 24797656
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.
    Afroze B; Wasay M
    J Coll Physicians Surg Pak; 2013 Nov; 23(10):823-5. PubMed ID: 24169397
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
    Wolf B
    Genet Med; 2017 Apr; 19(4):396-402. PubMed ID: 27657684
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
    Ye J; Wang T; Han LS; Qiu WJ; Zhang HW; Zhang YF; Gao XL; Wang Y; Gu XF
    J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S295-302. PubMed ID: 19728141
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
    Pindolia K; Jordan M; Guo C; Matthews N; Mock DM; Strovel E; Blitzer M; Wolf B
    Mol Genet Metab; 2011 Feb; 102(2):161-9. PubMed ID: 21051254
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
    Canda E; Yazici H; Er E; Kose M; Basol G; Onay H; Ucar SK; Habif S; Ozkinay F; Coker M
    J Pediatr Endocrinol Metab; 2018 Aug; 31(8):917-926. PubMed ID: 29995633
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.
    Carvalho NO; Del Castillo DM; Januário JN; Starling ALP; Arantes RR; Norton RC; Viana MB
    Am J Med Genet A; 2019 Jun; 179(6):978-982. PubMed ID: 30912303
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical issues and frequent questions about biotinidase deficiency.
    Wolf B
    Mol Genet Metab; 2010 May; 100(1):6-13. PubMed ID: 20129807
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Biotinidase deficiency: the two faces of metabolic screening].
    Pintos-Morell G
    Med Clin (Barc); 2011 Oct; 137(11):497-9. PubMed ID: 21764085
    [No Abstract]   [Full Text] [Related]  

  • 20. Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
    Liu Z; Zhao X; Sheng H; Cai Y; Yin X; Chen X; Su L; Lu Z; Zeng C; Li X; Liu L
    Am J Med Genet A; 2018 Mar; 176(3):589-596. PubMed ID: 29359854
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.