Results 71 to 80 of about 929 (148)

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results. [PDF]

Int J Mol Sci
Van Baelen A, Verhulst S, Eyskens F.
europepmc   +1 more source

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 more
europepmc   +1 more source

Phospholipids, Sphingolipids, and Cholesterol-Derived Lipid Mediators and Their Role in Neurological Disorders. [PDF]

Int J Mol Sci
Farooqui AA, Farooqui T.
europepmc   +1 more source

Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer. [PDF]

Cancers (Basel), 2022
Dubot P, Astudillo L, Therville N, Carrié L, Pettazzoni M, Cheillan D, Stirnemann J, Levade T, Andrieu-Abadie N, Sabourdy F.   +9 more
europepmc   +1 more source

Contradictory Effects on Hepatocytes in ASMD. [PDF]

Int J Mol Sci
Sysoev M, Solovyov D, Shestopalov A, Kutsev S.   +3 more
europepmc   +1 more source

Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening. [PDF]

Am J Ophthalmol Case Rep
Abousy M, Hucko L, Berrocal A, Saenz EV.
europepmc   +1 more source

Intracranial calcifications in DEGS1-Related Leukodystrophy: a potentially under-recognised neuroimaging feature. [PDF]

Neurol Sci
Vaia Y, Kim N, Jeyasingh S, Sudhakar S, Mankad K, Biswas A, Siddiqui A, Mundy H, Hedderly T, Singh RR.   +9 more
europepmc   +1 more source

The role of sphingolipids in heart failure. [PDF]

Eur Heart J Open
Hamouche R, Summers SA, Holland WL, Navankasattusas S, Drakos SG, Tseliou E.   +5 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis. [PDF]

Biomedicines
Teresi L, Trimarchi G, Licordari R, Restelli D, Taverna G, Liotta P, Micari A, Smecca I, Dendramis G, Turturiello D, Latini AC, Falasconi G, de Gregorio C, Crea P, Dattilo G, Berruezo A, Micari A, Di Bella G.   +17 more
europepmc   +1 more source

Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease. [PDF]

Brain
Guerra J, Belleri M, Scalvini E, Capoferri D, Tobia C, Ravelli C, Corli M, Bresciani N, Casas J, Fabrias G, Dei Cas M, Presta M, Mignani L.   +12 more
europepmc   +1 more source