Results 151 to 160 of about 10,325 (203)

Experimental neurotransplantation treatment for hereditary cerebellar ataxias [PDF]

, 2016
Jan Cendelin
core   +1 more source

Short-Term Acid Sphingomyelinase Deficiency Exerts Proinflammatory and Antiapoptotic Effects during LPS-induced Lung Injury in Mice. [PDF]

Am J Respir Cell Mol Biol
Poczobutt JM, Egersdorf N, Hiltabidle MS, Nishino K, Justice MJ, Rivera T, Dubois B, Borowiec A, Mousavi-Aghdas SA, Kopf K, Gally F, Matsuda J, Berdyshev EV, Petrache I.   +13 more
europepmc   +1 more source

Processing of mitochondrial precursor proteins [PDF]

, 1984
Neupert, Walter, Schmidt, Bernd
core  

Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Shaker EH, Saleh NAM.
europepmc   +1 more source

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B). [PDF]

Orphanet J Rare Dis, 2023
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E.   +21 more
europepmc   +1 more source

Orthotopic Liver Transplantation in Children With Hepatic-Based Metabolic Disease. [PDF]

, 1983
Gartner, JC, Iwatsuki, S, Malatack, JJ, Shaw, BW, Starzl, TE, Zitelli, BJ   +5 more
core  

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

Liver transplantation for inborn errors of metabolism [PDF]

, 1977
Koep, L, Putnam, CW, Starzl, TE
core  

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

Acid sphingomyelinase inhibition protects mice from lung edema and lethal sepsis [PDF]

core   +1 more source