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Fucosidosis
Neuroradiologic Findings in Fucosidosis, a Rare Lysosomal Storage Disease
4Th Glycoproteinoses International Conference Advances in Pathogenesis and Therapy
Mucopolysaccharidoses and Mucolipidoses
International Conference
Alpha-Fucosidosis ¬タモ Two Brothers Presenting with Dysostosis Multiplex
A Case of Type I Sialidosis with Osteonecrosis Revealing a New
Allo HCT for Metabolic Disorders and Severe Osteopetrosis Status: Recruiting
SSIEM Classification of Inborn Errors of Metabolism 2011
Collectively Common, Individually Rare Many
Novel Missense Mutations in the Human Lysosomal Sialidase Gene in Sialidosis Patients and Prediction of Structural Alterations of Mutant Enzymes
High Proportion of Mannosidosis and Fucosidosis Among Lysosomal Storage Diseases in Cuba
Lysosomal Storage Disorders Screen Interpretive Algorithm
Lysosomal Storage Disease Panel by Next-Generation Sequencing
The Role of Mutations on NAGA Gene in Schindler Syndrome
Clinico-Radiological Phenotyping and Diagnostic Pathways in Childhood Neurometabolic Disorders—A Practical Introductory Guide
Metabolic Disorders (Children)
The Identification of a Novel Fucosidosis-Associated
Glycoprotein Lysosomal Storage Disorders: K- and L-Mannosidosis, Fucosidosis and K-N-Acetylgalactosaminidase De¢Ciency
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Lysosomal Storage Diseases ª the Author(S) 2014 DOI: 10.1177/2326409813517663 Iem.Sagepub.Com
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
Metabolske Sykdommer V02
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Physician's Guide to the Diagnosis, Treatment, and Follow-Up Of
Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series
Exploratory Investigation and Inherited Metabolic Diseases
Lysosomal Storage Diseases Carlos Ferreira George Washington University
Lysosomal Storage Diseases
Fibroblasts by Specific Lectin Binding in Lysosomal Storage Diseases
Lysosomal Storage Disease in the Brain: Mutations of the Β-Mannosidase Gene Identified in Autosomal Dominant Nystagmus
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190 Allogeneic Hematopoietic Stem Cell Transplantation for Genetic
Blueprint Genetics Lysosomal Disorders And
Molecular Genetics and Metabolism 117 (2016) 221–298
(I-Cell Disease): Ultrastructural Observations of Conjunctiva and Skin