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Publications by Robert J. Desnick
Evaluating Quality of Life Tools in North American Patients With Erythropoietic Protoporphyria and X‐linked Protoporphyria
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions
American Journal of Human Genetics
Genetics
Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles
American Journal of Human Genetics
Genetics
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
American Journal of Human Genetics
Genetics
Characterization of Novel Cathepsin K Mutations in the Pro and Mature Polypeptide Regions Causing Pycnodysostosis
Journal of Clinical Investigation
Medicine
Enhancement of Residual Arylsulfatase B Activity in Feline Mucopolysaccharidosis VI by Thiol-Induced Subunit Association
Journal of Clinical Investigation
Medicine
Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase Beta Therapy in Patients With Fabry Disease
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
Fabry Disease: Twenty Novel Α-Galactosidase a Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes
Molecular Medicine
Molecular Medicine
Genetics
Molecular Biology
Fabry Disease: Effective Tissue Substrate Depletion Following Enzyme Replacement in Α-Galactosidase a Deficient Mice. • 607
Pediatric Research
Child Health
Pediatrics
Perinatology
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