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Last Updated: 10/31/2025

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Found 33 publications

Galactosialidosis presenting as non-immune hydrops.

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.

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.

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

Journal: Annals of human genetics
Published: September 01, 2024

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.

Journal: Food research international (Ottawa, Ont.)
Published: January 16, 2023

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.

Journal: Glycoconjugate journal
Published: January 16, 2023

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.

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.

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.

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.

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.

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.

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.

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

Journal: Medicine
Published: April 12, 2018
Showing 1-12 of 33

Last Updated: 10/31/2025