絞り込み

16638

広告

「glucocerebrosidase」の検索結果

2967件中 21件~40件表示    検索結果をPubMedで見る PubMedで見る

Evolution of prodromal parkinsonian features in a cohort of mutation-positive individuals: a 6-year longitudinal study.

A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations.

Gaucher Disease Involving Virchow's Lymph Node: a Case Report.

GBA1-associated parkinsonism: new insights and therapeutic opportunities.

Synthesis of modified 1,5-imino-d-xylitols as ligands for lysosomal -glucocerebrosidase.

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease.

Gaucher disease type 3c: New patients with unique presentations and review of the literature.

Glucocerebrosidase regulators SCARB2 and TFEB are up-regulated in Lewy body disease brain.

GBA RNAi but not catalytic inhibition of glucocerebrosidase with Conduritol-β-epoxide increases levels of total α-synuclein in SH-SY5Y cells.

Targeted enzyme delivery systems in lysosomal disorders: an innovative form of therapy for mucopolysaccharidosis.

A prognostic prediction system for hepatocellular carcinoma based on gene co-expression network.

Psychiatric manifestations in Egyptian Gaucher patients on enzyme replacement therapy.

Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia.

Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene.

Ophthalmological findings in Gaucher disease.

Dysregulated Lipid Metabolism and Its Role in α-Synucleinopathy in Parkinson's Disease.

Two siblings with Gaucher type 3c: different clinical presentations.

Optic Nerve Lipidomics Reveal Impaired Glucosylsphingosine Lipids Pathway in Glaucoma.

  1. 1
  2. 2
  3. 3
  4. 4
  5. 5
  6. 6
  7. 7
  8. 8
  9. 9
  10. 10
Sort by
※並べ替えは表示に時間がかかります