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Last Updated: 10/31/2025

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Found 2252 publications

Clinical utility of bone marrow biopsy and significance of early diagnosis of Gaucher's disease.

Clinical utility of bone marrow biopsy and significance of early diagnosis of Gaucher's disease.

Journal: BMJ case reports
Published: September 10, 2025

The Double Toxic MPTP+CBE Presymptomatic Parkinson-Like Phenotype in Mice.

The Double Toxic MPTP+CBE Presymptomatic Parkinson-Like Phenotype in Mice.

Journal: Biochemistry. Biokhimiia
Published: August 31, 2025

Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.

Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.

Journal: Neurogenetics
Published: August 25, 2025

A 3D iPSC retina model reveals non-cell-autonomous and non-neuronal mechanism of photoreceptor degeneration in a lysosomal storage disorder.

A 3D iPSC retina model reveals non-cell-autonomous and non-neuronal mechanism of photoreceptor degeneration in a lysosomal storage disorder.

Journal: bioRxiv : the preprint server for biology
Published: August 06, 2025

Gaucher disease, state of the art and perspectives.

Gaucher disease, state of the art and perspectives.

Journal: Journal of internal medicine
Published: July 04, 2025

Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease.

Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease.

Journal: Journal of inherited metabolic disease
Published: June 23, 2025

Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term Outcome.

Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term Outcome.

Journal: JIMD reports
Published: June 02, 2025

Broadening the mutational spectrum of ASAH1, as a susceptibility gene for keloids.

Broadening the mutational spectrum of ASAH1, as a susceptibility gene for keloids.

Journal: Journal of human genetics
Published: May 14, 2025

Genetic analysis of a fetus with Farber lipogranulomatosis caused by ASAH1 gene variant

Genetic analysis of a fetus with Farber lipogranulomatosis caused by ASAH1 gene variant

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 11, 2025

Clinical and Laboratory Characteristics of Gaucher Disease Caused by Complex Heterozygous Mutation.

Clinical and Laboratory Characteristics of Gaucher Disease Caused by Complex Heterozygous Mutation.

Journal: Clinical laboratory
Published: April 10, 2025

LIMP-2 deficiency-associated glycolipid abnormalities in mice.

LIMP-2 deficiency-associated glycolipid abnormalities in mice.

Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids
Published: April 08, 2025

Olfactory Perception in Parkinson's Disease: The Impact of GBA1 Variants (Sidransky Syndrome).

Olfactory Perception in Parkinson's Disease: The Impact of GBA1 Variants (Sidransky Syndrome).

Journal: International journal of molecular sciences
Published: April 06, 2025
Showing 1-12 of 2,252

Last Updated: 10/31/2025