Results 181 to 190 of about 29,070 (238)

Newborn Screening for Gaucher Disease: The New Jersey Experience. [PDF]

Int J Neonatal Screen
Menello C, Pressley S, Steffensen M, Schmidt S, Pedro H, Jethva R, Valdez-Gonzalez K, Adams DJ, Gupta P, King LT, Velinov M, Anderson S, Bizargity P, Pletcher B, Tuite A, Kresge C, Day-Salvatore DL, Kuehl R, Ficicioglu C.   +18 more
europepmc   +1 more source

Identification of Novel Mutations in Patients Affected by Gaucher Disease. [PDF]

Int J Mol Sci
Anania M, Giacomarra M, D'Errico A, Marano M, Tartaglione I, Spada M, Pagliardini V, De Paolis MR, Giuffrida G, Duro G, Di Chiara T, Francofonte D, Marsana EM, Colomba P, Duro G, Zizzo C.   +15 more
europepmc   +1 more source

Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry. [PDF]

J Inherit Metab Dis
Revel-Vilk S, Deegan P, Day-Salvatore D, Goker-Alpan O, Mengel E, Batista JL, Carwile JL, Perichon G, Ficicioglu C.   +8 more
europepmc   +1 more source

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening. [PDF]

Mol Genet Metab Rep
Beauregard-Lacroix É, Steffensen M, Menello C, Ficicioglu C.   +3 more
europepmc   +1 more source

The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry. [PDF]

Orphanet J Rare Dis
Mistry PK, Carwile JL, Burrow TA, Tantawy AAG, Camelo JS, Ganesh J, Batsu I, Perichon MG, Oliveira-Dos-Santos A, Batista JL.   +9 more
europepmc   +1 more source

Malaltia de Gaucher: avaluació del tractament [PDF]

, 2012
Almazán, Cari, Palacio, Núria, Sunyer, Berta   +2 more
core  

A large long-term database of Gaucher disease patients demonstrates increased risk of lymphoma and myeloma, but not of solid tumours. [PDF]

Intern Med J
Istaiti M, Dinur T, Paltiel O, Silverman B, Revel-Vilk S, Zimran A.   +5 more
europepmc   +1 more source

The Diagnosis and Therapy of Osteoporosis in Gaucher Disease. [PDF]

Calcif Tissue Int
Marcucci G, Brandi ML.
europepmc   +1 more source

Hyperuricaemia in type 1 Gaucher disease: is uric acid a biomarker for disease severity? [PDF]

Intern Med J
Hexner-Erlichman Z, Watad S, Szer J, Habashi N, Rosenbaum H.   +4 more
europepmc   +1 more source

Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls. [PDF]

Life (Basel)
Becker-Cohen M, Zimran A, Dinur T, Tiomkin M, Rolfs A, Arkadir D, Bauer P, Shulman E, Yahalom G, Cohen ME, Manor O, Paltiel O, Revel-Vilk S.   +12 more
europepmc   +1 more source