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「glucocerebrosidase」の検索結果

3083件中 181件~200件表示    検索結果をPubMedで見る PubMedで見る

[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.

Genetic analysis of the glucocerebrosidase gene in South Indian patients with Parkinson's disease.

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1.

[Gaucher's disease - an overview about a sphingolipidosis].

Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.

Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.

Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels.

Pharmacological treatment of pediatric Gaucher disease.

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.

New Frontiers in Parkinson's Disease: From Genetics to the Clinic.

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.

The Neuropsychiatric and Motor Profile of -Associated Parkinson's Disease: A Review.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

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