Suchergebnisse - "Lysosomal storage disease"

PubPharm (2.149)

1

Genetic Studies of Lysosomal Storage Disorders : Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders

enthalten in: ClinicalTrials.gov | 2024

2

Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy

enthalten in: Journal of pediatric endocrinology & metabolism : JPEM | 2024

von Kilic, A. | Emecen Sanli, M. | Ozsaydı Aktasoglu, E. | +6

3

Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model

enthalten in: Cell reports | 2024

von Weesner, J. | Annunziata, I. | van de Vlekkert, D. | +7

4

Newborn genetic screening for Fabry disease : Insights from a retrospective analysis in Nanjing, China

enthalten in: Clinica chimica acta; international journal of clinical chemistry | 2024

von Sun, Y. | Guan, X. | Wang, Y. | +7

5

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders : Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders

enthalten in: ClinicalTrials.gov | 2024

6

Progranulinopathy : A diverse realm of disorders linked to progranulin imbalances

enthalten in: Cytokine & growth factor reviews | 2024

von Huang, G. | Jian, J. | Liu, C.

7

TALEN-mediated intron editing of HSPCs enables transgene expression restricted to the myeloid lineage

enthalten in: Molecular therapy : the journal of the American Society of Gene Therapy | 2024

von Seclen, E. | Jang, J. | Lawal, A. | +6

8

Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease

enthalten in: Molecular cell | 2024

von Nyame, K. | Hims, A. | Aburous, A. | +7

9

Longitudinal Study of Neurodegenerative Disorders : Longitudinal Study of Neurodegenerative Disorders

enthalten in: ClinicalTrials.gov | 2024

10

Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease

enthalten in: The Journal of pathology | 2024

von Zhang, N. | Liu, F. | Zhao, Y. | +5

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