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Publications by John K. Boitnott
Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
The Clinical Management of Type 2 Gaucher Disease
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Glucosylsphingosine Accumulation in Type 2 Gaucher Disease Begins Early in Gestation
Pediatric Research
Child Health
Pediatrics
Perinatology
High Incidence of Cholesterol Gallstone Disease in Type 1 Gaucher Disease: Characterizing the Biliary Phenotype of Type 1 Gaucher Disease
Journal of Inherited Metabolic Disease
Genetics
Glucocerebrosidase 2 Gene Deletion Rescues Type 1 Gaucher Disease
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Lung Involvement in Gaucher Disease
Case Reports in Clinical Practice
Enzyme Replacement in Gaucher Disease
PLoS Medicine
Biochemistry
Biotechnology
Molecular Biology
Cell Biology
Medicine
Gaucher Disease Type I Complicated With Parkinson's Syndrome
Haematologia
Multiple Glycosidase Deficiencies in a Case of Juvenile (Type 3) Gaucher Disease.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Arimoclomol as a Potential Therapy for Neuronopathic Gaucher Disease