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Publications by Amy L. Barczykowski
Development of a Newborn Screening Tool for Mucopolysaccharidosis Type I Based on Bivariate Normal Limits: Using Glycosaminoglycan and Alpha‐L‐iduronidase Determinations on Dried Blood Spots to Predict Symptoms
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
A Pilot Newborn Screening Program for Mucopolysaccharidosis Type I in Taiwan
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Long-Term Restoration of Alpha-L-Iduronidase Activity in Fibroblasts From Patients With Mucopolysaccharidosis Type I After Non-Viral Gene Transfer
Clinical & Biomedical Research
Three Novel Α-L-Iduronidase Mutations in 10 Unrelated Chinese Mucopolysaccharidosis Type I Families
Genetics and Molecular Biology
Genetics
Molecular Biology
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay
PLoS ONE
Multidisciplinary
Multiplex Lysosomal Enzyme Activity Assay on Dried Blood Spots Using Tandem Mass Spectrometry
Methods in Molecular Biology
Genetics
Molecular Biology
Human Alpha-L-Iduronidase: cDNA Isolation and Expression.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Co-Expression of MGMTP140K and Α-L-Iduronidase in Primary Hepatocytes From Mucopolysaccharidosis Type I Mice Enables Efficient Selection With Metabolic Correction
Journal of Gene Medicine
Molecular Medicine
Drug Discovery
Genetics
Molecular Biology
Evaluation of Dried Blood Spots for Human Immunodeficiency Virus Type 1 Drug Resistance Testing
Journal of Clinical Microbiology
Microbiology
Examining Endocrine Disruptors Measured in Newborn Dried Blood Spots and Early Childhood Growth in a Prospective Cohort
Obesity
Nutrition
Endocrinology
Dietetics
Medicine
Metabolism
Diabetes