PracticeUpdate Conference Series - SSIEM 2018
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Cholesterol Ratios May Help Detect Risk of Insulin Resistance and Metabolic Syndrome in Patients With GSDI
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Though NGS Can Detect Genomic Deletions in Metabolic Disorders, Precise Characterization Is Lacking
6
Follow-Up of Newborns With Suspected Lysosomal Storage Diseases Can Be Reduced Significantly With Simultaneous MS/MS and Confirmatory Tests
8
Diagnosis of Mucopolysaccharidosis May Be Simplified Worldwide
10
Critical Care of Adults With MPS Involves Diverse Considerations
11
Targeted NGS Gene Panel Improves Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism
12
New Phenotype of Muscle Weakness in Classic Infantile Pompe Disease Has Emerged
14
Epicatechin Improves Several Measures of Friedreich’s Ataxia
16
Whole Exome Sequencing Is a Potent First-Line Diagnostic Tool for Neurometabolic Disorders
17
Genetic Analysis Essential for Diagnosis of Glucose Transporter-1 Deficiency Syndrome
18
NMR Analysis Helps Diagnose a Variety of Inborn Errors of Metabolism
20
New Cell Reporter Line Enables Drug Screening of NDST1 in Patients With Sanfilippo Lysosomal Storage Disorders
21
Sapropterin + Diet in Children With Phenylketonuria Raises and Maintains Phenylalanine Tolerance
22
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