PMC Articles for MedGen (Select 66323) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 153

<< First< Prev

Page of 8

Next >Last >>

Select item 93852541.

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

Vykuntaraju K. Gowda, Chetan Kerur, Dhananjaya K. Vamyanmane, Pragalatha Kumar, Vani H. Nagarajappa, Sanjay K. Shivappa

J Pediatr Genet. 2022 Sep; 11(3): 257–260. Published online 2020 Oct 8. doi: 10.1055/s-0040-1718537

PMCID:: PMC9385254

Article PubReader PDF–2.1M Cite

Select item 92658592.

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy

Daniela Semeraro, Sara Verrocchio, Giulia Di Dalmazi, Claudia Rossi, Damiana Pieragostino, Ilaria Cicalini, Rossella Ferrante, Silvia Di Michele, Liborio Stuppia, Cristiano Rizzo, Francesca Romana Lepri, Antonio Novelli, Carlo Dionisi-Vici, Vincenzo De Laurenzi, Ines Bucci

Int J Environ Res Public Health. 2022 Jul; 19(13): 8141. Published online 2022 Jul 2. doi: 10.3390/ijerph19138141

PMCID:: PMC9265859

Article PubReader PDF–1.8M Cite

Select item 91407513.

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

Aleksandra Jezela-Stanek, Lidia Suchoń, Agnieszka Sobczyńska-Tomaszewska, Kamila Czerska, Katarzyna Kuśmierska, Joanna Taybert, Mariusz Ołtarzewski, Jolanta Sykut-Cegielska

Genes (Basel) 2022 May; 13(5): 802. Published online 2022 Apr 29. doi: 10.3390/genes13050802

PMCID:: PMC9140751

Article PubReader PDF–276K Cite

Select item 87594304.

Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene

Kaustubh Mohite, Karthik Vijay Nair, Anilkumar Sapare, Venkatraman Bhat, Anju Shukla, Minal Kekatpure, Siddaramappa J. Patil

Indian J Pediatr. 2022; 89(6): 594–596. Published online 2022 Jan 14. doi: 10.1007/s12098-021-04000-3

PMCID:: PMC8759430

Article PubReader PDF–841K Cite

Select item 82003965.

Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy

Alice Maguolo, Giulia Rodella, Alice Dianin, Irene Monge, Martina Messina, Erika Rigotti, Francesca Pellegrini, Grazia Molinaro, Fiorenzo Lupi, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Francesca Teofoli, Monica Vincenzi, Marta Camilot, Giorgio Piacentini, Andrea Bordugo

Front Pediatr. 2021; 9: 661416. Published online 2021 May 31. doi: 10.3389/fped.2021.661416

PMCID:: PMC8200396

Article PubReader PDF–391K Cite

Select item 80770946.

Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

Jia Geng, Yi Sun, Yi Zhao, Wenyu Xiong, Mingjun Zhong, Yajuan Zhang, Qiuling Zhao, Zhongwei Bao, Jing Cheng, Yu Lu, Huijun Yuan

Mol Genet Genomic Med. 2021 Feb; 9(2): e1591. Published online 2021 Jan 16. doi: 10.1002/mgg3.1591

PMCID:: PMC8077094

Article PubReader PDF–570K Cite

Select item 79162307.

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening

Ilaria Cicalini, Damiana Pieragostino, Cristiano Rizzo, Sara Verrocchio, Daniela Semeraro, Mirco Zucchelli, Silvia Di Michele, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Ines Bucci, Claudia Rossi

Int J Environ Res Public Health. 2021 Feb; 18(4): 1659. Published online 2021 Feb 9. doi: 10.3390/ijerph18041659

PMCID:: PMC7916230

Article PubReader PDF–1.8M Cite

Select item 77734598.

Delayed Diagnosis of Congenital Hypothyroidism in a Child with Trisomy 21 and Biotinidase Deficiency and Successful Use of Levothyroxine Sodium Oral Solution

Matthew M. Feldt

Case Rep Endocrinol. 2020; 2020: 8883969. Published online 2020 Dec 23. doi: 10.1155/2020/8883969

PMCID:: PMC7773459

Article PubReader PDF–381K Cite

Select item 77504099.

Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults

Elizabeth Kellom, Kimberly Stepien, Gregory Rice, Barry Wolf

Mol Genet Metab Rep. 2021 Mar; 26: 100696. Published online 2020 Dec 15. doi: 10.1016/j.ymgmr.2020.100696

PMCID:: PMC7750409

Article PubReader PDF–321K Cite

Select item 771995710.

High frequency of biotinidase deficiency in Italian population identified by newborn screening

Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, Anna Caciotti, Maria Alice Donati, Amelia Morrone, Giancarlo la Marca

Mol Genet Metab Rep. 2020 Dec; 25: 100689. Published online 2020 Dec 5. doi: 10.1016/j.ymgmr.2020.100689

PMCID:: PMC7719957

Article PubReader PDF–800K Cite

Select item 764924011.

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy

Géraldine Van Winckel, Diana Ballhausen, Barry Wolf, Melinda Procter, Rong Mao, Patricie Burda, Davide Strambo, Thierry Kuntzer, Christel Tran

Front Neurol. 2020; 11: 516799. Published online 2020 Oct 26. doi: 10.3389/fneur.2020.516799

PMCID:: PMC7649240

Article PubReader PDF–331K Cite

Select item 757752612.

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

Florentine Radelfahr, Korbinian M. Riedhammer, Leonie F. Keidel, Gwendolyn Gramer, Thomas Meitinger, Thomas Klopstock, Matias Wagner

Neurol Genet. 2020 Dec; 6(6): e525. Published online 2020 Oct 13. doi: 10.1212/NXG.0000000000000525

PMCID:: PMC7577526

Article PubReader PDF–190K Cite

Select item 753662113.

Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood

Jonathan D. Santoro, Kelli C. Paulsen

JAMA Neurol. 2021 Jan; 78(1): 118–120. Published online 2020 Oct 5. doi: 10.1001/jamaneurol.2020.3558

PMCID:: PMC7536621

Article PubReader Cite

Select item 727450214.

Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity

Sumyya Ghazal, Aiman Ali, Taha Bin Arif, Fatima Memon, Laraib Malik

Cureus. 2020 May; 12(5): e8000. Published online 2020 May 7. doi: 10.7759/cureus.8000

PMCID:: PMC7274502

Article PubReader PDF–1.2M Cite

Select item 721108415.

Biotinidase Deficiency: Prevalence, Impact And Management Strategies

Ebru Canda, Sema Kalkan Uçar, Mahmut Çoker

Pediatric Health Med Ther. 2020; 11: 127–133. Published online 2020 May 4. doi: 10.2147/PHMT.S198656

PMCID:: PMC7211084

Article PubReader PDF–376K Cite

Select item 715155916.

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

Laith N. AL-Eitan, Kifah Alqa’qa’, Wajdi Amayreh, Rame Khasawneh, Hanan Aljamal, Mamoon Al-Abed, Yazan Haddad, Tamara Rawashdeh, Zaher Jaradat, Hazem Haddad

J Pers Med. 2020 Mar; 10(1): 4. Published online 2020 Jan 21. doi: 10.3390/jpm10010004