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- Lysosomal Storage Disease Panel by Next-Generation Sequencing
- DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases
- The Genetic Nomenclature of Recessive Cerebellar Ataxias
- Genes Associated with Neuraminidase-Deficiency Disorders (Sialidase/Gene Mapping/Complementation Analysis) 0
- Clinico-Radiological Phenotyping and Diagnostic Pathways in Childhood Neurometabolic Disorders—A Practical Introductory Guide
- Mucolipidoses Overview: Past, Present, and Future
- Metabolic Disorders (Children)
- Early Infantile Galactosialidosis Presenting with an Unusual Renal
- Functional Characterization of Alpha- Mannosidosis Associated Sequence Variants
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- Lysosomal Storage Diseases ª the Author(S) 2014 DOI: 10.1177/2326409813517663 Iem.Sagepub.Com
- Inborn Metabolic Diseases, DOI 10.1007/978-3-662-49771-5 , © Springer-Verlag Berlin Heidelberg 2016 644 Subject Index
- Neuro-Ophthalmic Manifestations
- Neuraminidase Deficiency: Case Report and Review of the Phenotype
- Child Neurology: Type 1 Sialidosis Due to a Novel Mutation in NEU1 Gene
- The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
- Benign Fibrous Histiocytoma Occurred in the Alveolar Mucosa
- Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
- Physician's Guide to the Diagnosis, Treatment, and Follow-Up Of
- Exploratory Investigation and Inherited Metabolic Diseases
- Leukodystrophy Overview Genereview Table 2 Authors: Vanderver A, Tonduti D, Schiffmann R, Schmidt J, Van Der Knaap MS Date: February 2014
- December 2005
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- Sialidosis Type I Without a Cherry Red Spot— Is There a Genetic Basis?