Schindler Disease Latest Advances

Alpha-N-acetylgalactosaminidase in cancer: diagnostic applications and related treatment strategies.

Journal: International journal of physiology, pathophysiology and pharmacology

Published: November 04, 2024

Identification of dual active sites in Caenorhabditis elegans GANA-1 protein: an ortholog of the human α-GAL a and α-NAGA enzymes.

Journal: Journal of biomolecular structure & dynamics

Published: June 13, 2022

Orphan Peripheral Neuropathies.

Journal: Journal of neuromuscular diseases

Published: September 28, 2020

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.

Journal: Cells

Published: May 09, 2020

A New Case of Schindler Disease.

Journal: European journal of case reports in internal medicine

Published: September 03, 2019

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

Journal: Journal of molecular neuroscience : MN

Published: April 28, 2019

Lysosomal storage diseases.

Journal: Translational science of rare diseases

Published: November 21, 2017

Multiple exo-glycosidases in human serum as detected with the substrate DNP-α-GalNAc. I. A new assay for lysosomal α-N-acetylgalactosaminidase.

Journal: BBA clinical

Published: October 25, 2017

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Journal: Rapid communications in mass spectrometry : RCM

Published: December 21, 2016

Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA.

Journal: Interdisciplinary sciences, computational life sciences

Published: November 09, 2015

Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease.

Journal: Rapid communications in mass spectrometry : RCM

Published: May 13, 2015

Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry.

Journal: Journal of mass spectrometry : JMS

Published: January 01, 2015

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Alpha-N-acetylgalactosaminidase in cancer: diagnostic applications and related treatment strategies.

Alpha-N-acetylgalactosaminidase in cancer: diagnostic applications and related treatment strategies.

Identification of dual active sites in Caenorhabditis elegans GANA-1 protein: an ortholog of the human α-GAL a and α-NAGA enzymes.

Identification of dual active sites in Caenorhabditis elegans GANA-1 protein: an ortholog of the human α-GAL a and α-NAGA enzymes.

Orphan Peripheral Neuropathies.

Orphan Peripheral Neuropathies.

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.

A New Case of Schindler Disease.

A New Case of Schindler Disease.

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

Lysosomal storage diseases.

Lysosomal storage diseases.

Multiple exo-glycosidases in human serum as detected with the substrate DNP-α-GalNAc. I. A new assay for lysosomal α-N-acetylgalactosaminidase.

Multiple exo-glycosidases in human serum as detected with the substrate DNP-α-GalNAc. I. A new assay for lysosomal α-N-acetylgalactosaminidase.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA.

Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA.

Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease.

Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease.

Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry.

Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry.