Results 141 to 150 of about 29,877 (187)

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. [PDF]

Neurology
Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolniková M, Park J, Reichmannová S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T.   +16 more
europepmc   +1 more source

A Rare Case of Niemann-Pick Disease Type-A. [PDF]

Cureus
Gul F, Begum S, Rasool P, Shah S, Waqar M.   +4 more
europepmc   +1 more source

Infantile Cholestatic Jaundice: A Variant of Niemann-Pick Disease Type C2. [PDF]

Cureus
Mohammed S, Mujibur Rahman A, R A.
europepmc   +1 more source

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2015
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

CffDNA screening for Niemann-pick disease, type C1: a case series. [PDF]

Front Med (Lausanne)
Lau SA, Fawaz RI, Rigobello R, Bawazeer S, Alajaji NM, Faqeih E, Li Y, Feng Y, Xia F, Eng CM, Abedalthagafi M.   +10 more
europepmc   +1 more source

Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report. [PDF]

Radiol Case Rep
Korsa EW, Hailu SS, Asfaw H, Damtew H, Solomon DZ.   +4 more
europepmc   +1 more source

Small-molecule activation of TFEB alleviates Niemann-Pick disease type C via promoting lysosomal exocytosis and biogenesis. [PDF]

Elife
Du K, Chen H, Pan Z, Zhao M, Cheng S, Luo Y, Zhang W, Li D.   +7 more
europepmc   +1 more source