Results 131 to 140 of about 9,175 (221)

A case with Gaucher-like cells

, 2001
Gaucher-like cells (GLC) are sometimes indistinguishable from real Gaucher cells. GLC can be detected in various diseases. We present a 4.5 year old boy with massive cervical lympadenopathy and an intraabdominal mass mimicking lymphoma. Many GLC were seen in the fine needle aspiration material of an enlarged lymph node.
Yüksel, Lebriz, Özkan, Alp, Ercan, Gökmen, Erener, Tuğba, Apak, Hilmi, Yıldız, İnci, Diren, Şuküfe   +6 more
openaire   +1 more source

From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease. [PDF]

Int J Mol Sci
Casazza K, Kartha RV, Jarnes JR.
europepmc   +1 more source

Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal. [PDF]

Ghana Med J
Keita M, Faye BF, Senghor AB, Diallo AB, Bousso ES, Touré SA, Seck M, Diop S.   +7 more
europepmc   +1 more source

The c-Abl-RIPK3 Axis Drives Mitochondrial Dysfunction and Impaired Mitophagy in Gaucher Disease Models. [PDF]

Antioxidants (Basel)
Lamaizon CM, Tironi-Hernández R, Arévalo NB, Ahumada SD, Gutiérrez DA, Brito-Fernández L, Del Campo A, Zanlungo S, Álvarez AR.   +8 more
europepmc   +1 more source

The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer. [PDF]

Cell Death Discov
Fantini V, Di Rauso G, Fioravanti V, Ciarrocchi A, Cavallieri F, Sancisi V.   +5 more
europepmc   +1 more source

Sphingolipid metabolism and hematologic disorders: current understanding and future directions. [PDF]

Front Physiol
Kuang Z, Huang T, Chen G.
europepmc   +1 more source

Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review. [PDF]

Hum Genomics
Konarbayeva A, Atavliyeva S, Auganova D, Baduanova S, Tarlykov P.   +4 more
europepmc   +1 more source

Safety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease. [PDF]

Life (Basel)
Lipiński P, Rokicki D, Chwiałkowska K, Ciborowski M, Godzień J, Jezela-Stanek A, Korotko U, Kwaśniewski M, Niemira M, Szymańska-Rożek P, Syczewska M, Tylki-Szymańska A.   +11 more
europepmc   +1 more source

Chronic Myeloid Leukemia Transforming into Acute Lymphoblastic Leukemia in a Patient with Gaucher Disease: A Case Report and Literature Review. [PDF]

Case Rep Oncol
Sayınalp Arslan B, Çatan Erdekli FT, Sağlam Ayhan A, Aladağ Karakulak E, Malkan ÜY, Büyükaşık Y.   +5 more
europepmc   +1 more source

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. [PDF]

Cureus
Kumar N, Dange P, Samadder A, Kalita S, Kaushik JS.   +4 more
europepmc   +1 more source