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Neurogenetic Disorders

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Navigating the financial and ethical challenges of high-cost biologicals in neurology

Oct. 14, 2024

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Cannabidiol demonstrated to alleviate symptoms of Leigh syndrome

Sep. 06, 2024

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The concept of orphan diseases: definition, necessity, and impact on global health

Feb. 07, 2024

Blog
A simple blood test can now diagnose De Vivo disease

Jun. 05, 2023

News Releases
FDA approves first enzyme replacement therapy for rare alpha-mannosidosis

Feb. 17, 2023

News Releases

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Neurogenetic Disorders

Latest Articles see all

Aminoacylase 1 deficiency

Carnitine palmitoyltransferase II deficiency

Pyruvate carboxylase deficiency

Pelizaeus-Merzbacher disease

Vanishing white matter disease

Wilson disease

Aromatic L-amino acid decarboxylase deficiency

White matter abnormalities in the brain

Hypermethioninemia

POLG-related mitochondrial disorders

Multiple acyl-CoA dehydrogenase deficiency

Medium-chain acyl-CoA dehydrogenase deficiency

Long-chain fatty acid oxidation defects

Nonketotic hyperglycinemia

Leukodystrophies

Latest News & More see all

Navigating the financial and ethical challenges of high-cost biologicals in neurology

Cannabidiol demonstrated to alleviate symptoms of Leigh syndrome

The concept of orphan diseases: definition, necessity, and impact on global health

A simple blood test can now diagnose De Vivo disease

FDA approves first enzyme replacement therapy for rare alpha-mannosidosis

Patient Handouts see all

Wilson disease

Refsum disease

Niemann-Pick disease

Mucopolysaccharidoses

Lipid storage diseases

Fabry disease

Canavan disease

Dysautonomia

External Resources see all

POLG Foundation

MitoAction

Human DNA Polymerase Gamma Mutation Database

MIPLYFFA™ package insert

FDA approves MIPLYFFA™ for Niemann-Pick disease type C

AQNEURSA™ package insert

FDA approves AQNEURSA™ for Niemann-Pick disease type C

FDA approves ELFABRIO® for Fabry disease

Media see all

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Neurogenetic Disorders Contributors