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Results for
""Biotinidase""[mesh_terms]

21 Results

Searching titles within these results

Biotinidase: its role in biotinidase deficiency and biotin metabolism.

Barry Wolf

The Journal of nutritional biochemistry 2005;16(7):441-5

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Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea.

Antonella Tosti, Giuseppe Micali, Gabriella Fabbrocini, Enzo Berardesca, Bianca M Piraccini

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia 2020;154(5):557-566

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

Arzhang Gordiz, Parvaneh Karimzadeh, Sadaf Parvin, Fatemeh Abdi, Vahid Zare Hosseinabadi, Maryam Kachuei, Sara Hemmati

Ophthalmic genetics 2024;45(2):120-125

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Forty-eight novel mutations causing biotinidase deficiency.

Melinda Procter, Rong Mao, Barry Wolf

Molecular genetics and metabolism 2016;117(3):369-72

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Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".

Barry Wolf

Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(6):565-75

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Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.

Roberta Battini, Giorgia Olivieri, Roberta Milone, Federica Mazio, Roberta Scalise, Tommaso Verdolotti, Guido Primiano, Orazio Genovese, Eugenio Mercuri, Serenella Servidei

Brain & development 2021;42(6):457-461

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Biotin in metabolism, gene expression, and human disease.

Alfonso León-Del-Río

Journal of inherited metabolic disease 2020;42(4):647-654

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Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults.

B Dermaut, G Laureys, D Hemelsoet, B Willekens, C J M Sindic, J De Zaeytijd, M Sprengers, V Van Iseghem

Multiple sclerosis and related disorders 2019;32():64-65

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Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

Mahmut Coker, Ferda Ozkinay, Sara Habif, Sema Kalkan Ucar, Huseyin Onay, Gunes Basol, Melis Kose, Esra Er, Havva Yazici, Ebru Canda

Journal of pediatric endocrinology & metabolism : JPEM 2018;31(8):917-926

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Biotin-dependent regulation of gene expression in human cells.

Alfonso León-Del-Río

The Journal of nutritional biochemistry 2005;16(7):432-4

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Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.

Sarbani Raha, Vrajesh Udani

Pediatric neurology 2012;45(4):261-4

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Biotinidase deficiency masquerading as multiple sclerosis?

Barry Wolf

Multiple sclerosis (Houndmills, Basingstoke, England) 2019;24(2):237-238

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Mutations in BTD causing biotinidase deficiency.

J Hymes, C M Stanley, B Wolf

Human mutation 2002;18(5):375-81

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Novel mutations cause biotinidase deficiency in Turkish children.

R J Pomponio, T Coskun, M Demirkol, A Tokatli, I Ozalp, G Hüner, T Baykal, B Wolf

Journal of inherited metabolic disease 2000;23(2):120-8

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Low serum biotinidase activity in children with valproic acid monotherapy.

G A Karikas, S Tsakiris, K H Schulpis, J Tjamouranis, S Regoutas

Epilepsia 2001;42(10):1359-62

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Results: 1 – 15 / 21

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Results for ""Biotinidase""[mesh_terms]

Biotinidase: its role in biotinidase deficiency and biotin metabolism.

Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea.

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

Forty-eight novel mutations causing biotinidase deficiency.

Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".

Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.

Biotin in metabolism, gene expression, and human disease.

Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults.

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

Biotin-dependent regulation of gene expression in human cells.

Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.

Biotinidase deficiency masquerading as multiple sclerosis?

Mutations in BTD causing biotinidase deficiency.

Novel mutations cause biotinidase deficiency in Turkish children.

Low serum biotinidase activity in children with valproic acid monotherapy.

Results for
""Biotinidase""[mesh_terms]