David W. Stockton

Internal Medicine

3901 Beaubien St
Detroit, MI 48201

Last Updated: 09/26/2026

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Found 24 publications

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Journal: Journal of neuromuscular diseases

Published: October 10, 2022

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.

Journal: Cardiology in the young

Published: August 23, 2021

Management of COVID-19 infection in organic acidemias.

Management of COVID-19 infection in organic acidemias.

Journal: American journal of medical genetics. Part A

Published: December 08, 2020

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy.

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy.

Journal: AJP reports

Published: April 27, 2020

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Journal: Human molecular genetics

Published: February 05, 2020

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.

Journal: Journal of neurology

Published: January 22, 2020

Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease.

Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease.

Journal: Case reports in pediatrics

Published: July 22, 2019

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.

Journal: Haematologica

Published: July 11, 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Journal: Human mutation

Published: May 31, 2019

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 24, 2019

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Journal: American journal of human genetics

Published: August 08, 2017

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 25, 2017

Showing 1-12 of 24

Last Updated: 09/26/2026