Galactosialidosis Latest Advances

Galactosialidosis presenting as non-immune hydrops.

Journal: BMJ case reports

Published: October 01, 2024

Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.

Journal: European journal of medical genetics

Published: September 10, 2024

Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis.

Journal: Annals of human genetics

Published: September 01, 2024

Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.

Journal: Glycoconjugate journal

Published: January 16, 2023

CRISPR/Cas9-mediated BoaAOP2s editing alters aliphatic glucosinolate side-chain metabolic flux and increases the glucoraphanin content in Chinese kale.

Journal: Food research international (Ottawa, Ont.)

Published: January 16, 2023

Assays and Utilization of Enzymes Involved in Glycolipid Metabolism in Bacteria and Fungi.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: December 31, 2022

Oral Positive Expiratory Pressure Device for Excessive Dynamic Airway Collapse Caused by Emphysema.

Journal: Chest

Published: December 10, 2020

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Journal: Prenatal diagnosis

Published: November 02, 2019

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.

Journal: Prenatal diagnosis

Published: October 25, 2019

Exploration of the Sialic Acid World.

Journal: Advances in carbohydrate chemistry and biochemistry

Published: December 05, 2018

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Journal: Journal of inherited metabolic disease

Published: June 29, 2018

Turning the backbone into an ankylosed concrete-like structure: Case report.

Journal: Medicine

Published: April 12, 2018

Galactosialidosis Latest Advances

Find the Latest Research About Galactosialidosis

Galactosialidosis presenting as non-immune hydrops.

Galactosialidosis presenting as non-immune hydrops.

Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.

Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.

Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis.

Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis.

Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.

Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.

CRISPR/Cas9-mediated BoaAOP2s editing alters aliphatic glucosinolate side-chain metabolic flux and increases the glucoraphanin content in Chinese kale.

CRISPR/Cas9-mediated BoaAOP2s editing alters aliphatic glucosinolate side-chain metabolic flux and increases the glucoraphanin content in Chinese kale.

Assays and Utilization of Enzymes Involved in Glycolipid Metabolism in Bacteria and Fungi.

Assays and Utilization of Enzymes Involved in Glycolipid Metabolism in Bacteria and Fungi.

Oral Positive Expiratory Pressure Device for Excessive Dynamic Airway Collapse Caused by Emphysema.

Oral Positive Expiratory Pressure Device for Excessive Dynamic Airway Collapse Caused by Emphysema.

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.

Exploration of the Sialic Acid World.

Exploration of the Sialic Acid World.

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Turning the backbone into an ankylosed concrete-like structure: Case report.

Turning the backbone into an ankylosed concrete-like structure: Case report.