Results 141 to 149 of about 5,921 (149)

A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency

Pediatric Dermatology, 2019
Bevin Bhoyrul
exaly  

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

Molecular Genetics and Metabolism, 2016
Roberto Giugliani, Karl Eugen Mengel, David Cassiman   +2 more
exaly  

ANTI-TFR: ACID SPHINGOMYELINASE FOR TREATMENT OF ACID SPHINGOMYELINASE DEFICIENCY

PRAGGASTIS MARIA, NAMBIAR KALYANI, SABIN LEAH, CYGNAR KATHERINE   +3 more
openaire   +1 more source

PHARMACEUTICAL COMPOSITIONS FOR TREATING ACID SPHINGOMYELINASE DEFICIENCY

2019
YANG MARK, BUSER CLAUDIA, PEREZ-RAMIREZ BERNARDO, TRIERWEILER GRANT, BENJWAL SANGEETA   +4 more
openaire   +3 more sources

Methods of treating acid sphingomyelinase deficiency

CHUANG WEI-LIEN, COX GERALD F, ZHANG X KATE   +2 more
openaire   +1 more source

AUTOMATED SCREENING FOR ACID SPHINGOMYELINASE DEFICIENCY

ALEXANDRA DUMITRIU, GASPARIC MAJA, GUILMIN PAULINE MARIE, MONTMERLE MARTIN KRISTIAN LOUIS, SANSEN STEFAAN, SHAH NEHA B   +5 more
openaire   +1 more source

RECOMBINANT HUMAN ACID SPHINGOMYELINASE FOR USE IN TREATING ABNORMAL BONE CONDITIONS IN ACID SPHINGOMYELINASE DEFICIENCY PATIENTS

2023
openaire   +1 more source

TREATMENT OF ABNORMAL BONE CONDITIONS IN ACID SPHINGOMYELINASE DEFICIENCY PATIENTS

2019
openaire   +6 more sources

DOSE ESCALATION ENZYME REPLACEMENT THERAPY FOR TREATING ACID SPHINGOMYELINASE DEFICIENCY

2011
SCHUCHMAN EDWARD H, DESNICK ROBERT J, COX GERALD F, ANDREWS LAURA P, MURRAY JAMES M   +4 more
openaire   +16 more sources