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Volume 8, Issue 6

Expert Opinion on Orphan Drugs

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Expert Opinion on Orphan Drugs, Volume 8, Issue 6 (2020)

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Expert Opinion on Orphan Drugs, Volume 8, Issue 6 (2020)

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Review

An update on current and potential genetic insights and diagnosis of Alport syndrome

Clifford E. Kashtan

Pages: 179-188

Published online: 06 Aug 2020

AbstractforAn update on current and potential genetic insights and diagnosis of Alport syndrome | Full Text | References | PDF (412.3 KB) | EPUB

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Designation of orphan conditions in Europe: regulatory observations and considerations after implementation of regulation 141/2000

Segundo Mariz, Kerstin Westermark & Bruno Sepodes

Pages: 189-196

Published online: 23 Jul 2020

AbstractforDesignation of orphan conditions in Europe: regulatory observations and considerations after implementation of regulation 141/2000 | Full Text | References | PDF (919.8 KB) | EPUB

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Homozygous familial hypercholesterolemia and its treatment by inclisiran

A David Marais, Dirk J Blom & Frederick J Raal

Pages: 197-208

Published online: 14 Jul 2020

AbstractforHomozygous familial hypercholesterolemia and its treatment by inclisiran | Full Text | References | PDF (498.5 KB) | EPUB

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Original Research

Article

Agreement of cardiovascular risk in ataxia-telangiectasia mutated heterozygotes and their children with Ataxia-telangiectasia

Talita Lemos Neves Barreto, Elaine Cristina De Almeida Kotchetkoff, Carolina Sanchez Aranda Lago & Roseli Oselka Saccardo Sarni

Pages: 209-213

Published online: 16 Jun 2020

AbstractforAgreement of cardiovascular risk in ataxia-telangiectasia mutated heterozygotes and their children with Ataxia-telangiectasia | Full Text | References | PDF (340.7 KB) | EPUB

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Expert Opinion on Orphan Drugs (Vol.8, Iss.6, 2020)

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