PubMed for id: 66323

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37119528,37027963,36759144,36684547,36583880,35990026,35805799,35627187,35099446,35032020,34448386,34271776,34166817,34136440,34107619,33572391,33452876,33425403,33364171,33312878,33217065,33192963,33134520,33016994,32997973,32972606,32809442,32741581,32683535,32559702,32523854,32440248,32300527,32281057,31973013,31801038,31594257,31392107,31035122,31000952,30912303,30616616,30551056,30001564,29995633,29728376,29680633,29431165,29359854,29353266,29240078,28971021,28682309,28653700,28649539,28649532,28640880,28586590,28498829,28356871,28281033,28220409,28167995,27845546,27761288,27657684,27329734,27240052,27207447,27144235,27014582,26810761,26361991,26358973,26221165,26203071,26169436,26037171,25967232,25956498,25795614,25423671,25228601,25192539,25174816,25144890,24797656,24665318,24169397,24066991,24036022,24005734,23644139,23481307,23430899,23220796,23105388,22698809,22679321,22605457,22457589,22241090,22011816,22010814,21907891,21752405,21696988,21571559,21123088,21115748,20556795,20539236,20301497,20224900,20204226,20153672,20129807,19757147,19728141,19727438,19179722,18820388,18645204,18545994,17710663,17621476,17382128,17185019,17161472,17092467,16480705,16435182,16151912,15992688,15877202,15776412,15711955,15328559,15306966,15230462,15060693,14754524,14707518,14628140,13680408,13679123,12791199,12766862,12618081,12608322,12608316,12372635,12359137,12227467,11952077,11924114,11865279,11668630,11388594,11313766,11033293,10932969,10801053,10728214,10400129,10206677,9764646,9713119,9705240,9654207,9516011,9506660,9433861,9433860,9427142,9396567,9375914,9232193,9158148,9099842,8894703,8750607,8593541,8412000,8327137,8327062,8283357,8278163,8232780,8138076,8053766,7761790,7550325,6883721,6875714,6690118,6438010,4073853,4054050,4033935,4015175,4000223,3944695,3930842,3930841,3926500,3925858,3796633,3762868,3736876,3660404,3658339,3500673,3399084,3391228,3196050,3148376,3095002,2608075,2587127,2502673,2373113,2356250,2314964,2295967,2109151,1896047,1877614,1779652,1779651,1729884,1706649,1599976,1592565,1561012,1524870,1503382,1441928,37085971,36678135,35901964,35663441,35207391,32308796,31857225,31613531,31335232,29531163,28214879,27413170,27264091,25527659,25284861,24012088,22157538,22126457,21596550,21371115,21248194,20943794,19540254,19165522,19056637,18845537,18824381,18752930,18520177,18356320,18174365,17751369,17720579,17182796,16895887,15992686,15867267,15863846,15681168,15628671,15623830,15542350,15296080,15284385,15165201,14747666,14707523,14203355,14127583,12888630,12399279,12165358,12097674,11815321,11739872,10632957,9973543,9497186,9094878,8905656,8819558,8558326,8500830,8407162,8263603,8231832,7390942,6830142,6827377,6615890,6615762,6500847,6484856,6436451,6429370,6401910,4120069,4012649,3934411,3923177,3783319,3766434,3542700,3405935,3211626,2962105,2933068,2923859,2919673,2918398,2895169,2871749,2861781,2605163,2499449,2303973,2274895,1992046,1764357,1619476,1548480,1520405,1244838,1187528,1148156,977217,901308,833692,679052,611493,177367,82516,43277,2375,37073846,35576117,35397036,35195902,34183250,33546543,33189081,32209270,32003480,31665838,31337602,30968642,30746739,26043506,25754625,24080039,21150366,20549359,20487708,20095979,20083419,17629531,17274881,16741343,16465618,16428895,16150625,11749055,10891024,10799968,10770035,10720437,10655158,9530634,8352834,8213911,7509806,3318710,1753440,1413809,1315891,33318181,33032167,32548856,31520508,31369292,31124733,28813664,27492331,26312779,26158509,24801390,23010431,21739353,17709434,16959947,16949696,16772434,16359899,16081274,15992685,15992683,15987846,15456772,14991266,14690760,12459313,12070309,12055344,11983808,11872456,10846444,10835608,10499515,10466187,8750606,8676868,6792336,6718308,6122310,1288763,19806568,12784229,6195318,3397627,106342,35398329,32419559,32115458,31638351,30364427,29214578,28516283,27271814,26400555,26370649,25366286,24532338,23622402,23183297,22641920,22137990,22116691,21892638,21839851,21422716,20333870,18814980,17616847,15224716,12638945,37131081,37089844,37084319,36158057,36032817,35953126,35843775,35800104,35769961,35713767,35578214,35363077,35265569,34823072,34738359,34736903,34595757,34470995,33605552,33461365,33071013,32931923,32762597,32606520,32601637,32378602,32119380,31786364,31655813,31597957,31241292,31043911,31022908,30872068,30648232,29954013,29899766[uid]

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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

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.

Kannan B, Navamani HK, Jayaseelan VP, Arumugam P. Kannan B, et al. J Pediatr Genet. 2022 Nov 1;12(1):1-15. doi: 10.1055/s-0042-1757887. eCollection 2023 Mar. J Pediatr Genet. 2022. PMID: 36684547 Free article. Review.

Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.

Toktaş İ, Sarıbaş S, Canpolat S, Erdem Ö, Özbek MN. Toktaş İ, et al. Turk J Pediatr. 2022;64(6):985-992. doi: 10.24953/turkjped.2022.467. Turk J Pediatr. 2022. PMID: 36583880 Free article.

A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis.

Gowda VK, Kerur C, Vamyanmane DK, Kumar P, Nagarajappa VH, Shivappa SK. Gowda VK, et al. J Pediatr Genet. 2020 Oct 8;11(3):257-260. doi: 10.1055/s-0040-1718537. eCollection 2022 Sep. J Pediatr Genet. 2020. PMID: 35990026 Free PMC article.

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. Semeraro D, et al. Int J Environ Res Public Health. 2022 Jul 2;19(13):8141. doi: 10.3390/ijerph19138141. Int J Environ Res Public Health. 2022. PMID: 35805799 Free PMC article.

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Jezela-Stanek A, Suchoń L, Sobczyńska-Tomaszewska A, Czerska K, Kuśmierska K, Taybert J, Ołtarzewski M, Sykut-Cegielska J. Jezela-Stanek A, et al. Genes (Basel). 2022 Apr 29;13(5):802. doi: 10.3390/genes13050802. Genes (Basel). 2022. PMID: 35627187 Free PMC article.

Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan.

Bibi A, Haroon ZH, Shujaat A, Aamir M, Irum S, Jaffar SR. Bibi A, et al. J Pak Med Assoc. 2022 Jan;72(1):97-100. doi: 10.47391/JPMA.2167. J Pak Med Assoc. 2022. PMID: 35099446 Free article.

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. Mohite K, et al. Indian J Pediatr. 2022 Jun;89(6):594-596. doi: 10.1007/s12098-021-04000-3. Epub 2022 Jan 14. Indian J Pediatr. 2022. PMID: 35032020 Free PMC article.

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