Results 101 to 110 of about 5,921 (149)

The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series. [PDF]

Respir Med Case Rep
Costa I Colomer J, Garcia-Moyano M, Maiz L, Perez-Tarazona S, Ruiz de Valbuena M, Ceberio L, Correcher P, Juliá-Palacios N, Morales M, Pérez-Yagüe G, Villarrubia J, Pérez-Rojo R.   +11 more
europepmc   +1 more source

Exploring Exhaled Breath Analysis in Adults With Chronic Visceral Acid Sphingomyelinase Deficiency to Identify Potential Biomarkers of Pulmonary Involvement. [PDF]

J Inherit Metab Dis
Eskes ECB, Schomakers BV, van Weeghel M, Terheggen-Lagro SWJ, Meijboom LJ, Hollak CEM, Brinkman P, Sjouke B.   +7 more
europepmc   +1 more source

Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study. [PDF]

Mol Genet Metab Rep
Sinha DB, Simpson WL, Ting A, Bier L, Freeman M, Mason LM, Diaz GA, Ganesh J.   +7 more
europepmc   +1 more source

Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report. [PDF]

J Bras Pneumol
Bridi GDP, Kairalla RA, Sawamura MVY, Baldi BG.   +3 more
europepmc   +1 more source

Ceramide lowering rescues respiratory defects in a Drosophila model of acid sphingomyelinase deficiency. [PDF]

Hum Mol Genet
Hull AJ, Atilano ML, Hallqvist J, Heywood W, Kinghorn KJ.   +4 more
europepmc   +1 more source

Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals. [PDF]

Hepatol Commun
Mistry PK, Cassiman D, Jones SA, Lachmann R, Lukina E, Prada CE, Wasserstein MP, Thurberg BL, Foster MC, Patel RM, Underhill LH, Peterschmitt MJ.   +11 more
europepmc   +1 more source

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears. [PDF]

Hemasphere
Girard S, Pettazzoni M, Froissart R, Pagan C, Boyer T, Dulucq S, Gonçalves Monteiro V, Lechevalier N, Loosveld M, Lours C, Mayeur-Rousse C, Pannetier M, Peillon C, Rosenthal MA, Sep Hieng S, Trichet C, Baseggio L, on behalf the French‐Speaking Cellular Haematology Group (GFHC).   +17 more
europepmc   +1 more source

Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population. [PDF]

Hum Genome Var
Sako S, Oishi K, Ida H, Imagawa E.
europepmc   +1 more source

Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD). [PDF]

Eur J Health Econ
Matza LS, Stewart KD, Fournier M, Rowen D, Lachmann R, Scarpa M, Mengel E, Obermeyer T, Ayik E, Laredo F, Pulikottil-Jacob R.   +10 more
europepmc   +1 more source

Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria. [PDF]

J Inherit Metab Dis
Eskes ECB, van Dussen L, Brands MMMG, Vaz FM, Aerts JMFG, van Kuilenburg ABP, Sjouke B, Hollak CEM.   +7 more
europepmc   +1 more source