Results 171 to 180 of about 10,325 (203)

Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study. [PDF]

Mol Genet Metab Rep
Pulikottil-Jacob R, Dehipawala S, Smith B, Athavale A, Gusto G, Chandak A, Khachatryan A, Banon T, Fournier M, Guillonneau S, Pollissard L, Munoz-Rojas MV.   +11 more
europepmc   +1 more source

Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data. [PDF]

Mol Genet Metab Rep
Doerr A, Farooq M, Faulkner C, Gould R, Perry K, Pulikottil-Jacob R, Rajasekhar P.   +6 more
europepmc   +1 more source

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. [PDF]

Orphanet J Rare Dis
Raebel EM, Wiseman S, Donnelly C, Mathieson T, Pountney J, Crowe J, Hopkin J.   +6 more
europepmc   +1 more source

The Long-term Lung and Respiratory Outcomes of Acid Sphingomyelinase Deficiency: A 10- and 20-year Follow-up Study.

In Vivo
Huang YN, Chiang SL, Huang JY, Lu WL, Bau DT, Su PH, Wang CH.   +6 more
europepmc   +1 more source

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Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

American Journal of Medical Genetics Part A, 2020
AbstractThe aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (n = 8) with chronic ASMD.
Cláubia V. Bender, Heraldo L. D. da Silveira, Natália S. dos Santos, Juliano Cavagni, Pantelis V. Rados, Angela B. John, Carolina F. M. De Souza, Roberto Giugliani, Fernanda Visioli   +8 more
openaire   +2 more sources

A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency

Pediatric Dermatology, 2019
AbstractAngiokeratoma corporis diffusum refers to symmetrical clusters of minute red papules in a “bathing trunk” distribution and is considered the cutaneous hallmark of Fabry disease. Acid sphingomyelinase deficiency is an autosomal recessive sphingolipidosis, which presents with massive hepatosplenomegaly, pulmonary infiltrates, and skeletal ...
Bevin Bhoyrul, David Wright, Lesley Heptinstall, Robert Barski, Ian Berry, Sheila Clark   +5 more
openaire   +2 more sources

MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency

Neuroradiology, 1999
MRI was performed in two siblings with the neuropathic sphingomyelinase deficiency caused by identical mixed heterozygosity in the structural acid sphingomyelinase gene. The clinical phenotype of the cases is unique in showing a rather protracted course, both having reached the fourth decade.
J, Obenberger, Z, Seidl, H, Pavlů, M, Elleder   +3 more
openaire   +2 more sources