Results 71 to 80 of about 12,191 (186)

Treatment options for patients with Gaucher disease

Egyptian Journal of Medical Human Genetics, 2016
Gaucher disease is the most common lysosomal storage disorder due to deficiency of ß-glucocerebrosidase. Since the introduction of Ceredase in 1991, enzyme replacement therapy has been the mainstay of treatment with its major disadvantage of long life ...
Rabah M. Shawky, Solaf M. Elsayed
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

An Overview of Gaucher Disease

Diagnostics
Background: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to a deficiency in the glucocerebrosidase gene. This deficiency results in the accumulation of glucocerebrosides in macrophages, primarily affecting the liver, spleen, and bone marrow.
Daniela Anahí Méndez-Cobián, Sandra Guzmán-Silahua, Diana García-Hernández, Julian Conde-Sánchez, Yaocihuatl Castañeda-Borrayo, Kylee Louise Duey, Maria G. Zavala-Cerna, Benjamín Rubio-Jurado, Arnulfo Hernán Nava-Zavala   +8 more
openaire   +3 more sources

Integrating Gaucher disease (GD) into mainstream hematological curriculum training

HemaSphere, Volume 10, Issue 10, October 2026.
Colm Bradley, Argiris Symeonidis, Sam Salek, Nkemdirim Jacob   +3 more
wiley   +1 more source

GAUCHER'S DISEASE [PDF]

Medical Journal Armed Forces India, 1999
C, Vidyashankar, R K, Sharma, S S, Bhatia, S C, Sharma, D, Ranganathan   +4 more
openaire   +2 more sources

Glucosylsphingosine affects mitochondrial function in a neuronal cell model

Communications Biology
Gaucher disease arises from mutations in glucocerebrosidase resulting in accumulation of glucosylceramide, which is deacylated to glucosylsphingosine.
Valeria Nikolaenko, Reddy Vootukuri, Simon Eaton, Jenny Hällqvist, Tomas Baldwin, Kevin Mills, Wendy Heywood   +6 more
doaj   +1 more source

Pathology of Gaucher's disease.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974
A review of the pathology of t 2 cases of non-neuronopathic type Gaucher's disease, diagnosed  over a 38-year period, t 935 to 1973, is presented. One of these patients is described in detail and an unusual association with a splenic epidermoid cyst in an unaffected sibling is documented.
openaire   +3 more sources

Gaucher Disease

Medicine, 1995
D, Balicki, E, Beutler
openaire   +2 more sources

Gaucher Disease: A First Reported Adult Case in Indonesia

Acta Medica Indonesiana
A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio.
Ardhi Rahman Ahani, Cosphiadi Irawan, Agnes Stephanie Harahap, Klara Yuliarti, Maria Francisca Ham, Faramitha Nur Izzaty, Damayanti Rusli Sjarif   +6 more
doaj   +2 more sources

Gaucher's Disease [PDF]

Proceedings of the Royal Society of Medicine, 1932
openaire   +2 more sources