Suchergebnisse - "Lysosomal disorders"

PubPharm (109)

1

Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

in: Genetics in Medicine Open | 2024

von Julie M. Lander | Monica Penon-Portmann | V. Reid Sutton | +1

2

Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019

enthalten in: Journal of inherited metabolic disease | 2023

von Laur, D. | Pichard, S. | Bekri, S. | +7

3

A Phase 1 First-in-Human Single-Ascending-Dose Trial With ESB1609, a Selective Agonist to the Sphingosine-1-Phosphate Receptor 5

enthalten in: Clinical pharmacology in drug development | 2023

von France, N. | Rubino, C. | Safir, M. | +11

4

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

enthalten in: EMBO molecular medicine | 2023

von Schlotawa, L. | Tyka, K. | Kettwig, M. | +18

5

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

in: EMBO Molecular Medicine | 2023

von Lars Schlotawa | Karolina Tyka | Matthias Kettwig | +18

6

Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice

enthalten in: Molecular genetics and metabolism | 2022

von Lenk, G. | Meisler, M.

7

Proteomics in Inherited Metabolic Disorders

enthalten in: International journal of molecular sciences | 2022

von Chantada-Vázquez, M. | Bravo, S. | Barbosa-Gouveia, S. | +2

8

Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis

enthalten in: JIMD reports | 2022

von Uribe-Ardila, A. | Ramirez-Borda, J. | Ayala, A.

9

Phenotypic and genetic spectrum of ATP6V1A encephalopathy : a disorder of lysosomal homeostasis

enthalten in: Brain : a journal of neurology | 2022

von Guerrini, R. | Mei, D. | Kerti-Szigeti, K. | +50

CommentIn: Brain. 2022 Jul 20;:. - PMID 35857819

10

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)

enthalten in: Therapeutics and clinical risk management | 2022

von Poswar, F. | Henriques Nehm, J. | Kubaski, F. | +2

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