Glycogen storage disease

Results: 221



#Item
141Lysosomal storage diseases / Glycogen storage disease type II / Hepatology / National Institutes of Health / National Institute of Arthritis and Musculoskeletal and Skin Diseases / Acid alpha-glucosidase / Alglucosidase alfa / Arthritis / Weakness / Medicine / Health / Rare diseases

JANUARY[removed]UNDERSTANDING POMPE DISEASE Pompe (POM-pay) disease, also known as glycogen storage disease type II or acid maltase deficiency, is a

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Source URL: niams.nih.gov

Language: English - Date: 2013-05-22 13:44:51
142Epidemiology / Newborn screening / Pediatrics / Prevention / Medical specialties / Screening / Glycogen storage disease type II / Autism / March of Dimes / Medicine / Health / Rare diseases

Evidence-based Evaluation and Decision Process for the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborn and Children: A Meeting Summary

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Source URL: www.hrsa.gov

Language: English - Date: 2012-01-07 00:53:48
143Severe combined immunodeficiency / Newborn screening / American College of Medical Genetics / Screening / Maternal and Child Health Bureau / Glycogen storage disease type II / Combined immunodeficiencies / Kernicterus / Jaundice / Health / Medicine / Rare diseases

DEPARTMENT OF HEALTH AND HUMAN SERVICES Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children 5600 Fishers Lane, Room 18A19 Rockville, Maryland 20857

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Source URL: www.hrsa.gov

Language: English - Date: 2012-01-07 00:54:25
144Adrenoleukodystrophy / Glycogen storage disease type II / Niemann–Pick disease / Time and date / Leukodystrophy / Health / Rare diseases / Medicine

As of January[removed]Summary of Nominated Conditions to the Recommended Uniform Screening Panel (RUSP) CONDITION Adrenoleukodystrophy (ALD)

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Source URL: www.hrsa.gov

Language: English - Date: 2014-02-08 05:13:35
145Glycogen storage disease type II / Lysosomal storage disease / Acid alpha-glucosidase / Newborn screening / Screening / Hypertrophic cardiomyopathy / Health / Rare diseases / Medicine

Microsoft Word - CRW Final Report- Screening for Pompe Disease 06042013_FinalEdits_CLEAN.docx

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Source URL: www.hrsa.gov

Language: English - Date: 2013-06-20 16:06:33
146Medical terms / Medical tests / Cancer screening / Glycogen storage disease type II / Screening / Newborn screening / Medicine / Health / Rare diseases

Priya S. Kishnani, M.D. Chief, Pediatric Medical Genetics Duke University Medical Center DUMC 3528 Durham, NC[removed]Dear Dr. Kishnani:

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Source URL: www.hrsa.gov

Language: English - Date: 2012-01-07 00:54:17
147Newborn screening / Screening / Glycogen storage disease type II / Infant / Severe combined immunodeficiency / Health / Rare diseases / Medicine

Recommendations, October 2008

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Source URL: www.hrsa.gov

Language: English - Date: 2012-01-07 00:53:48
148Newborn screening / Glycogen storage disease type II / Screening / Severe combined immunodeficiency / Health / Medicine / Rare diseases

Evidence Review Deliberations, March 30, 2009

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Source URL: www.hrsa.gov

Language: English - Date: 2012-01-07 00:53:22
149Glycogen storage disease type II / Newborn screening / Screening / National Institute of Child Health and Human Development / Health / Medicine / Rare diseases

DACHDNC Letter on the Addition of Pompe Disease to the Recommended Uniform Screening Panel

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Source URL: www.hrsa.gov

Language: English - Date: 2013-07-11 12:05:10
150Glycogen storage disease type II / Lysosomal storage disease / Acid alpha-glucosidase / Newborn screening / Screening / Medical genetics / Medicine / Health / Rare diseases

EVIDENCE REVIEW: POMPE DISEASE

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Source URL: www.hrsa.gov

Language: English - Date: 2012-01-07 00:54:21
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