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Publications by Lan Thi Ngcok Hoang
Different Attenuated Phenotypes of GM2 Gangliosidosis Variant B in Japanese Patients With HEXA Mutations at Codon 499, and Five Novel Mutations Responsible for Infantile Acute Form
Journal of Human Genetics
Genetics
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Biochemical Characterization of the GM2 Gangliosidosis B1 Variant
Brazilian Journal of Medical and Biological Research
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Pharmaceutics
Clinical, Enzymatic, and Molecular Characterisation of a Portuguese Family With a Chronic Form of GM2-gangliosidosis B1 Variant.
Journal of Medical Genetics
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GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings
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Novel NKX2-5 Mutations Responsible for Congenital Heart Disease
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Novel NKX2-5 Mutations Responsible for Congenital Heart Disease
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Three Novel Mutations of the PAX6 Gene in Japanese Aniridia Patients
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Fabry Disease: Twenty Novel Α-Galactosidase a Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes
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Three Novel PHEX Gene Mutations in Japanese Patients With X-Linked Hypophosphatemic Rickets
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Deficiency of the Hexosaminidase a Activator Protein in a Case of GM2 Gangliosidosis; Variant AB
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