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Volume 140, Issue Supplement_1

July 2017

ISSN 0031-4005

EISSN 1098-4275

In this Issue

Supplement Article

Newborn Screening, Diagnosis, and Treatment for Pompe Disease

Supplement Article

Title Page

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Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement

Priya S. Kishnani, MD; Wuh-Liang Hwu, MD; on behalf of the Pompe Disease Newborn Screening Working Group

Extract

View articletitled, Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement

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Topics: glycogen storage disease type ii , neonatal screening , nijmegen breakage syndrome , narcotic bowel syndrome

Newborn Screening for Pompe Disease

Olaf A. Bodamer, MD; C. Ronald Scott, MD; Roberto Giugliani, MD; on behalf of the Pompe Disease Newborn Screening Working Group

Abstract

View articletitled, Newborn Screening for Pompe Disease

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Topics: glycogen storage disease type ii , narcotic bowel syndrome , nijmegen breakage syndrome

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

Barbara K. Burton, MD; David F. Kronn, MD; Wuh-Liang Hwu, MD; Priya S. Kishnani, MD; on behalf of the Pompe Disease Newborn Screening Working Group

Abstract

View articletitled, The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

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Topics: glycogen storage disease type ii , narcotic bowel syndrome , nijmegen breakage syndrome , enzymes , sequence analysis, dna

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

David F. Kronn, MD; Debra Day-Salvatore, MD; Wuh-Liang Hwu, MD; Simon A. Jones, MBChB; Kimitoshi Nakamura, MD ...

Abstract

View articletitled, Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

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Topics: glycogen storage disease type ii , nijmegen breakage syndrome , narcotic bowel syndrome , alglucosidase alfa

The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening

Andrea M. Atherton, MS; Debra Day-Salvatore, MD; on behalf of the Pompe Disease Newborn Screening Working Group

Abstract

View articletitled, The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening

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Topics: genetic counseling , glycogen storage disease type ii , narcotic bowel syndrome , nijmegen breakage syndrome

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Newborn Screening, Diagnosis, and Treatment for Pompe Disease

Supplement Article

Title Page

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement

Newborn Screening for Pompe Disease

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening

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