4.5 Article

Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings

Danijela Petkovic Ramadza et al.

Summary: Gaucher disease type 3 is a severely debilitating disorder with multisystemic manifestations and neurodegeneration. Ambroxol, combined with enzyme replacement therapy, can improve neurological manifestations and may delay or prevent neurological involvement in some patients.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2021)

Article Clinical Neurology

Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism

Grisel Lopez et al.

MOVEMENT DISORDERS (2020)

Article Clinical Neurology

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Aya Narita et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2016)

Article Endocrinology & Metabolism

Parkinsonism and inborn errors of metabolism

A. Garcia-Cazorla et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Article Clinical Neurology

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

Ozlem Goker-Alpan et al.

ACTA NEUROPATHOLOGICA (2010)

Article Medicine, General & Internal

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

E. Sidransky et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)