Results 141 to 150 of about 15,504 (206)

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

GM1 gangliosidosis type 2 [PDF]

, 2020
openaire   +1 more source

Infection of a β-galactosidase-deficient mouse strain with Theiler's murine encephalomyelitis virus reveals limited immunological dysregulations in this lysosomal storage disease. [PDF]

Front Immunol
Wannemacher R, Stegmann F, Eikelberg D, Bühler M, Li D, Kohale SK, Asawapattanakul T, Ebbecke T, Raulf MK, Baumgärtner W, Lepenies B, Gerhauser I.   +11 more
europepmc   +1 more source

Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency. [PDF]

Mol Genet Metab
Beecy SJ, Gross AL, Maguire AS, Hoffman LMK, Diffie EB, Cuddon P, Kell P, Jiang X, Gray-Edwards HL, Martin DR.   +9 more
europepmc   +1 more source

A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis. [PDF]

Anal Bioanal Chem
Kim J, Byeon SK, Oglesbee D, Schultz MJ, Matern D, Pandey A.   +5 more
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]

Ital J Pediatr
Noureldeen MM, Zaki MS, Rafat K, Abdel-Hamid MS, Salem AMS.   +4 more
europepmc   +1 more source

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease. [PDF]

Neurol Int
González-Sánchez M, Ramírez-Expósito MJ, Martínez-Martos JM.   +2 more
europepmc   +1 more source

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders. [PDF]

Genes (Basel)
Urizar E, McCarron EP, Gadepalli C, Bentley A, Woolfson P, Lin S, Iosifidis C, Browning AC, Bassett J, Senarathne UD, Indika NR, Church HJ, Cooper JA, Menendez Lorenzo J, Farrugia ME, Jones SA, Black GC, Stepien KM.   +17 more
europepmc   +1 more source

GM1 gangliosidosis type I.

Indian pediatrics, 1990
N, Sathy, K M, Krishnamoorthy, A, Ravikumar   +2 more
openaire   +1 more source

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots. [PDF]

Biomolecules
Martineau T, Maranda B, Auray-Blais C.
europepmc   +1 more source