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Publications by Stephanie M. DeGasperis

4H Leukodystrophy

Neurology: Genetics

English

Related publications

4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A

English

Metachromatic Leukodystrophy

English

A Rare Form of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy With Pigmented Glia

Canadian Journal of Neurological Sciences

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Adult Leukodystrophy: Multi-Disciplinary Structured Approach

Journal of Neurology, Neurosurgery and Psychiatry

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Metachromatic Leukodystrophy: Two Sides of a Coin.

English

Refsum Disease Presenting With a Late-Onset Leukodystrophy

Internal Medicine

Molecular Biology

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Molecular Bases of Metachromatic Leukodystrophy in Polish Patients

Journal of Human Genetics

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Progressive Encephalopathy With Leukodystrophy Due to DECR Deficiency

English

Renal Histopathological Findings of Retinal Vasculopathy With Cerebral Leukodystrophy

CEN Case Reports

English