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Journal Abstract Search

201 related items for PubMed ID: 32972606

  • 1. Biotinidase deficiency characterized by skin and hair findings.
    Yang Y, Yang JY, Chen XJ.
    Clin Dermatol; 2020; 38(4):477-483. PubMed ID: 32972606
    [Abstract] [Full Text] [Related]

  • 2. Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.
    Tonin R, Caciotti A, Funghini S, la Marca G, Pasquini E, Cayton E, Mooney SD, Guerrini R, Morrone A.
    Clin Chim Acta; 2015 May 20; 445():70-2. PubMed ID: 25795614
    [Abstract] [Full Text] [Related]

  • 3. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".
    Wolf B.
    Genet Med; 2012 Jun 20; 14(6):565-75. PubMed ID: 22241090
    [Abstract] [Full Text] [Related]

  • 4. 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 20; 176(3):589-596. PubMed ID: 29359854
    [Abstract] [Full Text] [Related]

  • 5. Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
    Geng J, Sun Y, Zhao Y, Xiong W, Zhong M, Zhang Y, Zhao Q, Bao Z, Cheng J, Lu Y, Yuan H.
    Mol Genet Genomic Med; 2021 Feb 20; 9(2):e1591. PubMed ID: 33452876
    [Abstract] [Full Text] [Related]

  • 6.
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    [No Abstract] [Full Text] [Related]

  • 7. 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 20; 25(4):413. PubMed ID: 15776412
    [Abstract] [Full Text] [Related]

  • 8. Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking.
    Liu S, Zhang Y, Deng Z, He H, Zheng X, Hong Q, Luo X.
    Int J Mol Sci; 2023 Jun 16; 24(12):. PubMed ID: 37373384
    [Abstract] [Full Text] [Related]

  • 9. 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 16; 32 Suppl 1():S295-302. PubMed ID: 19728141
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Biotinidase deficiency and our champagne legacy.
    Wolf B.
    Gene; 2016 Sep 10; 589(2):142-50. PubMed ID: 26456103
    [Abstract] [Full Text] [Related]

  • 12. Profound biotinidase deficiency: a rare disease among native Swedes.
    Ohlsson A, Guthenberg C, Holme E, von Döbeln U.
    J Inherit Metab Dis; 2010 Dec 10; 33 Suppl 3():S175-80. PubMed ID: 20224900
    [Abstract] [Full Text] [Related]

  • 13. Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population.
    Asgari A, Rouhi Dehnabeh S, Zargari M, Khani S, Mozafari H, Varasteh A, Keyfi F, Barzegari M, Hasanzaeh R, Khatami S.
    Arch Iran Med; 2016 Nov 10; 19(11):774-778. PubMed ID: 27845546
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 183(3):1341-1351. PubMed ID: 38141137
    [Abstract] [Full Text] [Related]

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

  • 16. [Diagnosis and treatment of biotinidase deficiency-clinical study of six patients].
    Yang YL, Yamaguchi S, Tagami Y, Zhang YH, Xiong H, Hasegawa Y, Kimura M, Hanai J, Fujita K, Qian N, He XJ, Wu Y, Bao XH, Qin J, Wu X.
    Zhonghua Er Ke Za Zhi; 2003 Apr 10; 41(4):249-51. PubMed ID: 14754524
    [Abstract] [Full Text] [Related]

  • 17. Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
    Moatter T, Ahmed S, Majid H, Jafri L, Bilal M, Najumuddin, Faisal, Khan AH.
    J Gene Med; 2024 Jan 10; 26(1):e3597. PubMed ID: 37751899
    [Abstract] [Full Text] [Related]

  • 18. Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.
    Patra S, Senthilnathan G, Bhari N.
    Clin Exp Dermatol; 2020 Mar 10; 45(2):266-267. PubMed ID: 31323123
    [No Abstract] [Full Text] [Related]

  • 19. 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 10; 112(3):242-6. PubMed ID: 24797656
    [Abstract] [Full Text] [Related]

  • 20. Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder.
    Ali F, Mukhtiar K, Raza M, Ibrahim S.
    BMJ Case Rep; 2024 Jul 10; 17(7):. PubMed ID: 38991566
    [Abstract] [Full Text] [Related]

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