Results 91 to 100 of about 2,335 (161)

[Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Wei Y, Guo H, Xu JN, Chen YY, Shi HX.
europepmc   +1 more source

Screening for acid sphingomyelinase deficiency in patients with an interstitial lung disease. [PDF]

Orphanet J Rare Dis
Vermant M, Van Raemdonck I, Veyt N, Carlon MS, Cortesi EE, De Crem N, De Rooy M, Follet T, Gogaert S, Vanaudenaerde B, Cassiman D, De Sadeleer LJ, Wuyts WA.   +12 more
europepmc   +1 more source

SMPD1-mediated sphingolipid metabolism dysregulation in predicting and preventing in-stent restenosis of coronary heart disease patients. [PDF]

J Pharm Anal
Meng W, Sha Y, Zhong-Ga CR, Pan H, Zhai X, Zhen P, Tong HHY, Lao EPL, Zhang H, Yang W, Cui S, Song X, Li K.   +12 more
europepmc   +1 more source

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease [PDF]

Neurology, 2014
Ruey-Meei, Wu, Chin-Hsien, Lin, Han-I, Lin   +2 more
openaire   +2 more sources

Acid sphingomyelinase is a gatekeeper of placental labyrinthine architecture and function. [PDF]

Development
Rovic I, Szelag K, Li H, McQuaid R, Sugin S, Wu Q, Theodora N, Sled J, Jurisicova A.   +8 more
europepmc   +1 more source

A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient. [PDF]

Mol Genet Metab Rep
Guimas A, Martins E.
europepmc   +1 more source

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan. [PDF]

Mol Genet Genomic Med
Lin HH, Chen HA, Lin SJ, Hsu RH, Lee NC, Hwu WL, Ni YH, Chou YY, Chiu PC, Peng SS, Chien YH.   +10 more
europepmc   +1 more source

Non-invasive epigenetic protein signatures associated with childhood obesity. [PDF]

Clin Epigenetics
Richter EM, Patel P, Babu JR, Geetha T.
europepmc   +1 more source

Research Progress on the SMPD1 Gene and Parkinson’s Disease

Advances in Clinical Medicine
openaire   +1 more source

Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Gug C, Jurca AA, Popoiu TA, Patrascu R, Roman PA, Olteanu L, Andreescu N.   +7 more
europepmc   +1 more source