LYSET/TMEM251/GCAF is critical for autophagy and lysosomal function by regulating the mannose-6-phosphate (M6P) pathway. [PDF]
Autophagy, 2023 Zhang B, Yang X, Li M.
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Ultrasonography of the painful hip in childhood [PDF]
, 1999 There are many diseases in childhood that affect the hip joint. Some diseases are systemic in origin and initially may present themselves as hip disorders, such as rheumatoid arthritis.
Robben, S.G.F. (Simon)
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, 2018 This chapter covers the full spectrum of systemic diseases in paediatric rheumatology including: the systemic vasculitides (HSP, Kawasaki disease, PAN, ANCA-associated vasculitis, Takayasu arteritis, Behçet's disease, cerebral vasculitis, and many others)
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Novel Pathogenic Variant in the NEU1 Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot. [PDF]
Neurology, 2023 Sahoo LK +6 more
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Biallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype [PDF]
Dysostosis multiplex is a skeletal dysplasia often associated with lysosomal storage disorders (LSDs) such as mucopolysaccharidoses (MPS) and mucolipidoses (ML).
Pouya, Farzaneh +7 more
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Structural insights into how GlcNAc-1-phosphotransferase directs lysosomal protein transport. [PDF]
J Biol Chem, 2022 Du S +5 more
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A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings. [PDF]
Arq Bras Oftalmol, 2023 Meşen S, Batur M, Ozer MD.
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, 1991 There are at least three stages in the targeting of soluble lysosomal enzymes: transfer of N-acetylglucosaminyl 1-phosphate to high-mannose oligosaccharide side chains, removal of N-acetylglucosamine and recognition of the "uncovered" mannose 6-phosphate
GRASSEL S +3 more
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Short stature, dysostosis multiplex and storage disorder: mucolipidosis II. [PDF]
BMJ Case Rep, 2023 Kaur J +3 more
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Anaesthetic Management in Mucopolysaccharidoses Patients: Clinical Experience in a Tertiary Hospital. [PDF]
Cureus, 2022 Machado A +4 more
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