Results 171 to 180 of about 14,130 (212)

Saccadic Eye Movement as a Harbinger of Gaucher's Disease in Children: A Case Report of Diagnostic Difficulty. [PDF]

Clin Case Rep
Khadayat R, Tuladhar S, Kc SR, Shresth B, Shrestha S, Gautam T, Basnet R, Thapa S, Magrati D.   +8 more
europepmc   +1 more source

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project. [PDF]

Mediterr J Hematol Infect Dis
Costa A, Perra D, Mulas O, Podda L, Longu F, Fozza C, Palmas A, Curreli L, Cappellini MD, Zizzo C, Caocci G.   +10 more
europepmc   +1 more source

Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy. [PDF]

Pharmaceutics
Geard AF, Massaro G, Hughes MP, Arbuthnot P, Waddington SN, Rahim AA.   +5 more
europepmc   +1 more source

Parkinson's Disease: The Catabolic Theory [PDF]

, 2013
Manzoni, C
core  

Multi-omics insights into GBA1-associated Parkinson's disease: interplay of genomics, transcriptomics, proteomics, and lipidomics. [PDF]

Mol Neurodegener
Ni Y, Cai H, Shao Y, Le W.
europepmc   +1 more source

Evaluation of Induced Pluripotent Stem Cell-Derived Dopaminergic Neurons from Siblings with Gaucher Disease Discordant for Parkinsonism. [PDF]

Mov Disord
Hertz E, Rytel K, Perez G, Hao Y, Li Z, Ma C, Andersh K, Qi YA, Ryan E, Lopez G, Tayebi N, Sidransky E, Chen Y.   +12 more
europepmc   +1 more source

Olfactory Perception in Parkinson's Disease: The Impact of <i>GBA1</i> Variants (Sidransky Syndrome). [PDF]

Int J Mol Sci
Cohen ME, Shechter Y, Dominko M, Shulman E, Dinur T, Revel-Vilk S, Eichel R, Yahalom G, Becker-Cohen M.   +8 more
europepmc   +1 more source

Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns. [PDF]

Int J Neonatal Screen
Dantonio P, Klug T, Yazdanpanah G, Haynes C, Zhou H, Hopkins P, Vogt R, Lee R, Cuthbert C, Petritis K.   +9 more
europepmc   +1 more source

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor. [PDF]

Neurol Sci
Koç Yekedüz M, Yilmaz R, Abali T, Kibrit SN, Karacan AV, Unutmaz EY, Ayık G, Genç-Batmaz D, Dilek GR, Çelik B, Gemci E, Şahin T, Yalcin A, Ceylaner S, Akbostancı MC, Eminoğlu FT.   +15 more
europepmc   +1 more source

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Elsayed SM, Elsayh KI, Taha SA, Abdelmotogaly HSM, Embaby MM.   +5 more
europepmc   +1 more source