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 *

168 related articles for article (PubMed ID: 16435182)

  • 1. Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.
    Baykal T; Gokcay G; Gokdemir Y; Demir F; Seckin Y; Demirkol M; Jensen K; Wolf B
    J Inherit Metab Dis; 2005; 28(6):903-12. PubMed ID: 16435182
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
    Gannavarapu S; Prasad C; DiRaimo J; Napier M; Goobie S; Potter M; Chakraborty P; Karaceper M; Munoz T; Schulze A; MacKenzie J; Li L; Geraghty MT; Al-Dirbashi OY; Rupar CA
    Mol Genet Metab; 2015 Nov; 116(3):146-51. PubMed ID: 26361991
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
    Borsatto T; Sperb-Ludwig F; Lima SE; S Carvalho MR; S Fonseca PA; S Camelo J; M Ribeiro E; F V de Medeiros P; M Lourenço C; F M de Souza C; Boy R; Félix TM; M Bittar C; L C Pinto L; C Neto E; J Blom H; D Schwartz IV
    PLoS One; 2017; 12(5):e0177503. PubMed ID: 28498829
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene.
    Mohite K; Nair KV; Sapare A; Bhat V; Shukla A; Kekatpure M; Patil SJ
    Indian J Pediatr; 2022 Jun; 89(6):594-596. PubMed ID: 35032020
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
    Seker Yilmaz B; Mungan NO; Kor D; Bulut D; Seydaoglu G; Öktem M; Ceylaner S
    J Pediatr Endocrinol Metab; 2018 Mar; 31(3):339-343. PubMed ID: 29353266
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Biotinidase deficiency: What have we learned in forty years?
    Tankeu AT; Van Winckel G; Elmers J; Jaccard E; Superti-Furga A; Wolf B; Tran C
    Mol Genet Metab; 2023 Apr; 138(4):107560. PubMed ID: 37027963
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family.
    Torkamandi S; Rezaei S; Mirfakhraie R; Golmohamadi S; Gholami M
    Mol Biol Rep; 2020 May; 47(5):4021-4027. PubMed ID: 32281057
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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; 445():70-2. PubMed ID: 25795614
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
    Karaca M; Özgül RK; Ünal Ö; Yücel-Yılmaz D; Kılıç M; Hişmi B; Tokatlı A; Coşkun T; Dursun A; Sivri HS
    Eur J Pediatr; 2015 Aug; 174(8):1077-84. PubMed ID: 25754625
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
    Möslinger D; Stöckler-Ipsiroglu S; Scheibenreiter S; Tiefenthaler M; Mühl A; Seidl R; Strobl W; Plecko B; Suormala T; Baumgartner ER
    Eur J Pediatr; 2001 May; 160(5):277-82. PubMed ID: 11388594
    [TBL] [Abstract][Full Text] [Related]  

  • 15. High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.
    Semeraro D; Verrocchio S; Di Dalmazi G; Rossi C; Pieragostino D; Cicalini I; Ferrante R; Di Michele S; Stuppia L; Rizzo C; Lepri FR; Novelli A; Dionisi-Vici C; De Laurenzi V; Bucci I
    Int J Environ Res Public Health; 2022 Jul; 19(13):. PubMed ID: 35805799
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.
    Möslinger D; Mühl A; Suormala T; Baumgartner R; Stöckler-Ipsiroglu S
    Eur J Pediatr; 2003 Dec; 162 Suppl 1():S46-9. PubMed ID: 14628140
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
    Forny P; Wicht A; Rüfenacht V; Cremonesi A; Häberle J
    J Inherit Metab Dis; 2022 May; 45(3):605-620. PubMed ID: 35195902
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening.
    Zengin Akkus P; Ciki K; Mete Yesil A; Ilter Bahadur E; Karahan S; Ozmert EN; Sivri S
    Eur J Pediatr; 2021 Jan; 180(1):217-224. PubMed ID: 32683535
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 9(2):e1591. PubMed ID: 33452876
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.