Results 141 to 150 of about 5,159 (209)

Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots. [PDF]

Mol Genet Metab
Shaff A, Basheeruddin K, Bekri S, Brown HA, Church HJ, Gianares J, Hong X, Jones SA, Kappell T, Kubaski F, Oliva P, Orsini J, Tebani A, Wu THY, Lalic G, Gelb MH.   +15 more
europepmc   +1 more source

Sulfatide deficiency-induced astrogliosis and myelin lipid dyshomeostasis are independent of TREM2-mediated microglial activation. [PDF]

Nat Commun
He S, Mittra N, Bao H, Bhattacharjee A, Dodds SG, Dupree JL, Han X.   +6 more
europepmc   +1 more source

Metabolic signatures in sciatic nerve of PMP22 transgenic rats provide insights into the pathogenesis of charcot-marie-tooth disease type 1 A. [PDF]

Sci Rep
Muller A, Grove K, Christen I, Kreider J, Santos C, Hoque S, Bidinosti M, Hatakeyama S, Zhang J.   +8 more
europepmc   +1 more source

Choroidal Neovascularization Is Suppressed With Activation of TREM2 in Mononuclear Phagocytes-Brief Report. [PDF]

Arterioscler Thromb Vasc Biol
Yagi H, Boeck M, Neilsen K, Yang J, Ko M, Tomita Y, Negishi K, Fu Z, Sun Y, Smith LEH.   +9 more
europepmc   +1 more source

GAL3ST1-Mediated Histone Tyrosine Sulfation Induced by Cancer-Associated Fibroblasts Promotes Gastric Cancer Metastasis. [PDF]

Cancer Res
Lu Y, Wu X, Li B, Yao L, Hou J, Yu B, Li J, Li C, Yan M, Yang Z, Yan C, Zhu Z, Liu B, Tang K, Pan T, Yu Z, Jin Z, Su L.   +17 more
europepmc   +1 more source

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy. [PDF]

J Clin Invest
Ramachandran S, Ardinger J, Bu J, Ramos M, Guo L, Ghosh D, Hossain M, Chou SC, Chen Y, Wischhof E, Ayloo S, Trullo R, Luo Y, Hogestyn JM, DuBreuil DM, Crosier E, Flyer-Adams JG, Richards AM, Tsabar M, Gaglia G, Nass S, Nambiar B, Woodcock D, O'Riordan C, Tang Q, Elmer B, Zhang B, Goulet M, Mueller C.   +28 more
europepmc   +1 more source

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation. [PDF]

Ann Med Surg (Lond)
Mahin FE, Rubab M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review. [PDF]

Int J Neonatal Screen
Laugwitz L, Shenker A, Sluys EF, Pintat S, Whiteman D, Chanson C.   +5 more
europepmc   +1 more source

Guillain-Barré syndrome following <i>Escherichia coli</i> meningitis after cupping therapy: a case report. [PDF]

Front Immunol
Liu A, Liu Y, Shi L, Xiong B, Zhi D, Duan H, Yu A.   +6 more
europepmc   +1 more source