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Publications by Dorothy K. Grange

Fabry Disease in Infancy and Early Childhood: A Systematic Literature Review

Genetics in Medicine
MedicineGenetics
2014English

Electrophysiologic Consequences of KATP Gain of Function in the Heart: Conduction Abnormalities in Cantu Syndrome

Heart Rhythm
Cardiovascular MedicinePhysiologyCardiology
2015English

Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 Are Likely Mediated by Complex Low-Copy Repeats

Human Mutation
Genetics
2011English

Cantu Syndrome-Associated SUR2 (ABCC9) Mutations in Distinct Structural Domains Result in KATPchannel Gain-Of-Function by Differential Mechanisms

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
2017English

Variability in Phenylalanine Control Predicts IQ and Executive Abilities in Children With Phenylketonuria

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2014English

White Matter Integrity and Executive Abilities Following Treatment With Tetrahydrobiopterin (BH4) in Individuals With Phenylketonuria

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2013English

Newborn Screening for Pompe Disease in Illinois: Experience With 684,290 Infants

International Journal of Neonatal Screening
Child HealthPediatricsGynecologyPerinatologyMicrobiology ObstetricsImmunology
2020English

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