| Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory. | Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Sharma R, Kucera CR, Nery CR, Lacbawan FL, Salazar D, Tanpaiboon P. | 02/9/2024 |
| Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin. | 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. | 02/7/2024 |
| Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience. | Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.
Erdol S, Kocak TA, Bilgin H. | 06/13/2023 |
| Biotinidase deficiency: What have we learned in forty years? | 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. | 04/26/2023 |
| BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation. | BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Oz O, Karaca M, Atas N, Gonel A, Ercan M. | 09/11/2021 |
| In patients with biotinidase deficiency, the p.Leu40Pro, p.Cys160Tyr and p.Leu446Pro variants are deleterious; the p.Asn489Ser is probably related to a mild biochemical phenotype; and p.Asp222Asn variant is probably not deleterious. The p.Asp444His variant seems to code for a protein with variable activity. | Effect of BTD gene variants on in vitro biotinidase activity.
Borsatto T, Sperb-Ludwig F, Blom HJ, Schwartz IVD. | 04/18/2020 |
| BTD mutation is associated with biotinidase deficiency. | 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. | 12/1/2018 |
| Biotinidase deficiency is reviewed. | Clinical utility gene card for: Biotinidase deficiency-update 2015.
Küry S, Ramaekers V, Bézieau S, Wolf B., Free PMC Article | 02/3/2018 |
| Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). | Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
Permuth JB, Pirie A, Ann Chen Y, Lin HY, Reid BM, Chen Z, Monteiro A, Dennis J, Mendoza-Fandino G, AOCS Study Group, Australian Cancer Study (Ovarian Cancer), Anton-Culver H, Bandera EV, Bisogna M, Brinton L, Brooks-Wilson A, Carney ME, Chenevix-Trench G, Cook LS, Cramer DW, Cunningham JM, Cybulski C, D'Aloisio AA, Anne Doherty J, Earp M, Edwards RP, Fridley BL, Gayther SA, Gentry-Maharaj A, Goodman MT, Gronwald J, Hogdall E, Iversen ES, Jakubowska A, Jensen A, Karlan BY, Kelemen LE, Kjaer SK, Kraft P, Le ND, Levine DA, Lissowska J, Lubinski J, Matsuo K, Menon U, Modugno R, Moysich KB, Nakanishi T, Ness RB, Olson S, Orlow I, Pearce CL, Pejovic T, Poole EM, Ramus SJ, Anne Rossing M, Sandler DP, Shu XO, Song H, Taylor JA, Teo SH, Terry KL, Thompson PJ, Tworoger SS, Webb PM, Wentzensen N, Wilkens LR, Winham S, Woo YL, Wu AH, Yang H, Zheng W, Ziogas A, Phelan CM, Schildkraut JM, Berchuck A, Goode EL, Pharoah PD, Sellers TA, Ovarian Cancer Association Consortium., Free PMC Article | 07/15/2017 |
| The history and genetic basis of biotinidase deficiency has been presented. (Review) | Biotinidase deficiency and our champagne legacy.
Wolf B. | 01/28/2017 |
| 48 novel alterations in the biotinidase gene have been identified; correlating the individual's serum enzymatic activity with genotype, were able to determine the effect of the novel alteration on enzyme activity and, thereby, determine its likelihood of being pathogenic in 44 of these individuals | Forty-eight novel mutations causing biotinidase deficiency.
Procter M, Wolf B, Mao R. | 12/17/2016 |
| The common biotinidase gene mutations (p.R157H, p.D444H, c.98-104del7ins3, p.T532M) cumulatively accounted for 72.3% of all the mutant alleles in the Turkish population. | 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. | 06/28/2016 |
| Summary of the demographic features of patients identified as biotinidase deficient from August of 2012 through August of 2013 and mutation analysis results for 20 cases in the southeast region of Turkey. | Mutations in BTD gene causing biotinidase deficiency: a regional report.
Kasapkara ÇS, Akar M, Özbek MN, Tüzün H, Aldudak B, Baran RT, Tanyalçın T. | 03/26/2016 |
| Three novel pathogenic variants in BTD gene were identified in a cohort of Brazilian patients with biotinidase deficiency and control suggesting an allelic heteregeneity of the condition. | Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Borsatto T, Sperb-Ludwig F, Pinto LL, Luca GR, Carvalho FL, Souza CF, Medeiros PF, Lourenço CM, Lo Filho R, Neto EC, Bernardi P, Leistner-Segal S, Schwartz IV., Free PMC Article | 11/8/2014 |
| Report incidence of profound biotinase deficiency in Swedish newborns and adoptive immigrant children. | Profound biotinidase deficiency: a rare disease among native Swedes.
Ohlsson A, Guthenberg C, Holme E, von Döbeln U. | 04/12/2014 |
| High frequencies of biotinidase mutations may explain the high incidence of biotinidase deficiency in Hungary. | High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
Milánkovics I, Németh K, Somogyi C, Schuler A, Fekete G. | 04/12/2014 |
| Mutation analysis revealed three novel mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3 in Biotinidase deficiency patients and families. | 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. | 03/8/2014 |
| Four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation | High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.
Sarafoglou K, Bentler K, Gaviglio A, Redlinger-Grosse K, Anderson C, McCann M, Bloom B, Babovic-Vuksanovic D, Gavrilov D, Berry SA. | 08/10/2013 |
| Six different mutations in the biotinidase gene are identified in biotinidase in four Chinese patients; determination of biotinidase activities are performed for selective screening of biotinidase deficiency | 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. | 08/10/2013 |
| loss of overall biotinidase expression is a novel marker for thyroid cancer aggressiveness. | Biotinidase is a novel marker for papillary thyroid cancer aggressiveness.
So AK, Kaur J, Kak I, Assi J, MacMillan C, Ralhan R, Walfish PG., Free PMC Article | 04/20/2013 |
| Plasma BTD activity increases in hepatic glycogen storage disease patients. | Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Angaroni CJ, Giner-Ayala AN, Hill LP, Guelbert NB, Paschini-Capra AE, Dodelson de Kremer R. | 02/12/2011 |
| 140 known mutations in the biotinidase gene (BTD) that cause biotinidase deficiency, are reported. | Analysis of mutations causing biotinidase deficiency.
Pindolia K, Jordan M, Wolf B. | 12/11/2010 |
| Mutations in biotinidase is associated with biotinidase deficiency. | Technical standards and guidelines for the diagnosis of biotinidase deficiency.
Cowan TM, Blitzer MG, Wolf B, Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. | 10/23/2010 |
| 12 patients with multiple carboxylase deficiency, six mutations were found in the BT gene and 4 in the HLCS gene, including 5 novel mutations. | [Gene mutation analyses in Chinese children with multiple carboxylase deficiency].
Wang T, Ye J, Han LS, Qiu WJ, Zhang HW, Zhang YF, Gao XL, Wang Y, Gu XF. | 01/21/2010 |
| Posttranslational modification of histones by biotinylation can be catalyzed by biotinidase; role of this function is ambiguous. | Biotinyl-methyl 4-(amidomethyl)benzoate is a competitive inhibitor of human biotinidase.
Kobza KA, Chaiseeda K, Sarath G, Takacs JM, Zempleni J., Free PMC Article | 01/21/2010 |