Wolf B - Search Results

1

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

Kellom E, Stepien K, Rice G, Wolf B. Kellom E, et al. Among authors: wolf b. Mol Genet Metab Rep. 2020 Dec 15;26:100696. doi: 10.1016/j.ymgmr.2020.100696. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33364171 Free PMC article.

2

High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders.

Wolf B. Wolf B. Mol Genet Metab. 2019 Aug;127(4):321-324. doi: 10.1016/j.ymgme.2019.07.003. Epub 2019 Jul 9. Mol Genet Metab. 2019. PMID: 31320189 No abstract available.

3

Response to comment on "High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders".

Wolf B. Wolf B. Mol Genet Metab Rep. 2019 Sep 6;21:100511. doi: 10.1016/j.ymgmr.2019.100511. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31516832 Free PMC article. No abstract available.

4

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.

Kellom ER, Wolf B, Rice GM, Stepien KE. Kellom ER, et al. Among authors: wolf b. J Neuroophthalmol. 2021 Mar 1;41(1):e27-e30. doi: 10.1097/WNO.0000000000000933. J Neuroophthalmol. 2021. PMID: 32235217 No abstract available.

5

Revisiting the administration of biotin to children with biotin-responsive disorders.

Wolf B. Wolf B. Mol Genet Metab. 2022 Sep-Oct;137(1-2):225-227. doi: 10.1016/j.ymgme.2022.07.004. Epub 2022 Jul 6. Mol Genet Metab. 2022. PMID: 35843775

6

Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.

Wolf B. Wolf B. Mult Scler Relat Disord. 2019 Feb;28:26-30. doi: 10.1016/j.msard.2018.11.030. Epub 2018 Nov 28. Mult Scler Relat Disord. 2019. PMID: 30551056

7

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK. Ganapathi M, et al. Among authors: wolf b. Am J Hum Genet. 2019 Feb 7;104(2):287-298. doi: 10.1016/j.ajhg.2018.12.017. Epub 2019 Jan 17. Am J Hum Genet. 2019. PMID: 30661771 Free PMC article.

8

Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.

Wolf B. Wolf B. Mult Scler J Exp Transl Clin. 2020 Apr 29;6(2):2055217320923131. doi: 10.1177/2055217320923131. eCollection 2020 Apr-Jun. Mult Scler J Exp Transl Clin. 2020. PMID: 32440355 Free PMC article. No abstract available.

9

Letter to the Editor with regards to the article: Biotinidase deficiency in a Newborn.

Wolf B. Wolf B. J Neonatal Perinatal Med. 2023;16(2):191-192. doi: 10.3233/NPM-190372. J Neonatal Perinatal Med. 2023. PMID: 37270813 No abstract available.

10

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherová L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Škorić-Milosavljević D, Stránecký V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denommé-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Lahrouchi N, et al. Among authors: wolf b. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148. J Clin Invest. 2021. PMID: 33645542 Free PMC article.

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