PubMed for id: 66323

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38234168,38141137,37751899,37725148,37564434,37373384,37229044,37119528,37027963,36759144,36684547,36583880,35990026,35805799,35627187,35099446,35032020,34448386,34271776,34166817,34136440,34107619,33572391,33452876,33425403,33364171,33312878,33217065,33192963,33134520,33016994,32997973,32972606,32809442,32741581,32683535,32559702,32523854,32440248,32300527,32281057,31973013,31801038,31594257,31392107,31035122,31000952,30912303,30616616,30551056,30001564,29995633,29728376,29680633,29431165,29359854,29353266,29240078,28971021,28682309,28653700,28649539,28649532,28640880,28586590,28498829,28356871,28281033,28220409,28167995,27845546,27761288,27657684,27329734,27240052,27207447,27144235,27014582,26810761,26361991,26358973,26221165,26203071,26169436,26037171,25967232,25956498,25795614,25423671,25228601,25192539,25174816,25144890,24797656,24665318,24169397,24066991,24036022,24005734,23644139,23481307,23430899,23220796,23105388,22698809,22679321,22605457,22457589,22241090,22011816,22010814,21907891,21752405,21696988,21571559,21123088,21115748,20556795,20539236,20301497,20224900,20204226,20153672,20129807,19757147,19728141,19727438,19179722,18820388,18645204,18545994,17710663,17621476,17382128,17185019,17161472,17092467,16480705,16435182,16151912,15992688,15877202,15776412,15711955,15328559,15306966,15230462,15060693,14754524,14707518,14628140,13680408,13679123,12791199,12766862,12618081,12608322,12608316,12372635,12359137,12227467,11952077,11924114,11865279,11668630,11388594,11313766,11033293,10932969,10801053,10728214,10400129,10206677,9764646,9713119,9705240,9654207,9516011,9506660,9433861,9433860,9427142,9396567,9375914,9232193,9158148,9099842,8894703,8750607,8593541,8412000,8327137,8327062,8283357,8278163,8232780,8138076,8053766,7761790,7550325,6883721,6875714,6690118,6438010,4073853,4054050,4033935,4015175,4000223,3944695,3930842,3930841,3926500,3925858,3796633,3762868,3736876,3660404,3658339,3500673,3399084,3391228,3196050,3148376,3095002,2608075,2587127,2502673,2373113,2356250,2314964,2295967,2109151,1896047,1877614,1779652,1779651,1729884,1706649,1599976,1592565,1561012,1524870,1503382,1441928,37085971,36678135,35901964,35663441,35207391,32308796,31857225,31613531,31335232,29531163,28214879,27413170,27264091,25527659,25284861,24012088,22157538,22126457,21596550,21371115,21248194,20943794,19540254,19165522,19056637,18845537,18824381,18752930,18520177,18356320,18174365,17751369,17720579,17182796,16895887,15992686,15867267,15863846,15681168,15628671,15623830,15542350,15296080,15284385,15165201,14747666,14707523,14203355,14127583,12888630,12399279,12165358,12097674,11815321,11739872,10632957,9973543,9497186,9094878,8905656,8819558,8558326,8500830,8407162,8263603,8231832,7390942,6830142,6827377,6615890,6615762,6500847,6484856,6436451,6429370,6401910,4120069,4012649,3934411,3923177,3783319,3766434,3542700,3405935,3211626,2962105,2933068,2923859,2919673,2918398,2895169,2871749,2861781,2605163,2499449,2303973,2274895,1992046,1764357,1619476,1548480,1520405,1244838,1187528,1148156,977217,901308,833692,679052,611493,177367,82516,43277,2375,37131081,37073846,35576117,35397036,35195902,34183250,33546543,33189081,32209270,32003480,31665838,31337602,30968642,30746739,26043506,25754625,24080039,21150366,20549359,20487708,20095979,20083419,17629531,17274881,16741343,16465618,16428895,16150625,11749055,10891024,10799968,10770035,10720437,10655158,9530634,8352834,8213911,7509806,3318710,1753440,1413809,1315891,38036278,37770403,37391029,33318181,33032167,32548856,31520508,31369292,31124733,28813664,27492331,26312779,26158509,24801390,23010431,21739353,17709434,16959947,16949696,16772434,16359899,16081274,15992685,15992683,15987846,15456772,14991266,14690760,12459313,12070309,12055344,11983808,11872456,10846444,10835608,10499515,10466187,8750606,8676868,6792336,6718308,6122310,1288763,19806568,12784229,6195318,3397627,106342,26456103,24075304,38327992,38324479,38299772,38221916,38074073,37901531,37895316,37701517,37646746,37089844,37084319,36158057,36032817,35953126,35843775,35800104,35769961,35713767,35578214,35398329,35363077,35320237,35265569,34823072,34738359,34736903,34595757,34470995,33605552,33461365,33071013,32931923,32762597,32606520,32601637,32378602,32119380,32115458,31786364,31655813,31638351,31597957,31241292,31043911,31022908,30872068,30648232,30364427,29954013[uid]

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Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.

Abdi F, Parvin S, Zare Hosseinabadi V, Kachuei M, Gordiz A, Hemmati S, Karimzadeh P. Abdi F, et al. Ophthalmic Genet. 2024 Apr;45(2):120-125. doi: 10.1080/13816810.2023.2296921. Epub 2024 Jan 17. Ophthalmic Genet. 2024. PMID: 38234168 Review.

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. Yılmaz B, et al. Eur J Pediatr. 2024 Mar;183(3):1341-1351. doi: 10.1007/s00431-023-05376-4. Epub 2023 Dec 23. Eur J Pediatr. 2024. PMID: 38141137

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. Moatter T, et al. J Gene Med. 2024 Jan;26(1):e3597. doi: 10.1002/jgm.3597. Epub 2023 Sep 26. J Gene Med. 2024. PMID: 37751899

A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity.

Sürücü Kara İ, Köse E, Koç Yekedüz M, Eminoğlu FT. Sürücü Kara İ, et al. J Pediatr Endocrinol Metab. 2023 Sep 20;36(11):1061-1071. doi: 10.1515/jpem-2023-0337. Print 2023 Nov 27. J Pediatr Endocrinol Metab. 2023. PMID: 37725148

Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings.

Gowda VK, Avaragollapuravarga Mathada A, Srinivasan VM, Vamyanmane DK. Gowda VK, et al. Adv Biomed Res. 2023 Jun 28;12:148. doi: 10.4103/abr.abr_98_22. eCollection 2023. Adv Biomed Res. 2023. PMID: 37564434 Free PMC article.

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. Liu S, et al. Int J Mol Sci. 2023 Jun 16;24(12):10239. doi: 10.3390/ijms241210239. Int J Mol Sci. 2023. PMID: 37373384 Free PMC article.

Tetraparesis as an initial manifestation of biotinidase deficiency: a case report.

Badour M, Hammed A, Baqla S, Amer F. Badour M, et al. Ann Med Surg (Lond). 2023 Apr 12;85(5):1826-1829. doi: 10.1097/MS9.0000000000000099. eCollection 2023 May. Ann Med Surg (Lond). 2023. PMID: 37229044 Free PMC article.

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. Erdol S, et al. J Pediatr Endocrinol Metab. 2023 May 1;36(6):555-560. doi: 10.1515/jpem-2023-0003. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37119528

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. Tankeu AT, et al. Mol Genet Metab. 2023 Apr;138(4):107560. doi: 10.1016/j.ymgme.2023.107560. Epub 2023 Mar 24. Mol Genet Metab. 2023. PMID: 37027963 Free article.

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. Biswas A, et al. AJNR Am J Neuroradiol. 2023 Mar;44(3):328-333. doi: 10.3174/ajnr.A7781. Epub 2023 Feb 9. AJNR Am J Neuroradiol. 2023. PMID: 36759144 Free PMC article.

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