Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]
Makridou A +6 more
europepmc +1 more source
Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency. [PDF]
Beecy SJ +9 more
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A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis. [PDF]
Kim J +5 more
europepmc +1 more source
Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients. [PDF]
Zoppo C +14 more
europepmc +1 more source
B4Galnt1 Deficiency Reverses Severe Neurological Symptoms in a Mouse Model of Tay-Sachs Disease. [PDF]
Yanbul S +3 more
europepmc +1 more source
Gangliosides in molecular interactions and cell regulation. [PDF]
Mlinac-Jerkovic K, Heffer M, Schnaar RL.
europepmc +1 more source
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]
Noureldeen MM +4 more
europepmc +1 more source
Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]
García-Ortíz JE +3 more
europepmc +1 more source

