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

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

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Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design.

Denis Anywar Arony, Suzanne Gazda, David Lagoro Kitara

The Pan African medical journal 2018;30():115

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Forty-eight novel mutations causing biotinidase deficiency.

Melinda Procter, Barry Wolf, Rong Mao

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

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Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.

Matthias R Baumgartner

Handbook of clinical neurology 2014;113():1799-810

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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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Effect of ultraviolet radiation, smoking and nutrition on hair.

Ralph M Trüeb

Current problems in dermatology 2016;47():107-20

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Results: 1 – 15 / 16

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Results for ""Biotinidase Deficiency""[mesh_terms]

Biotinidase: its role in biotinidase deficiency and biotin metabolism.

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

Biotinidase deficiency masquerading as multiple sclerosis?

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

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

Biotin-dependent regulation of gene expression in human cells.

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

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

Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.

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

Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design.

Forty-eight novel mutations causing biotinidase deficiency.

Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.

Biotin in metabolism, gene expression, and human disease.

Effect of ultraviolet radiation, smoking and nutrition on hair.

Results for
""Biotinidase Deficiency""[mesh_terms]