Inborn errors of carbohydrate metabolism

Results: 280



#Item
101Respiratory therapy / Rare diseases / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Hepatology / Lysosomal storage disease / Physical therapy / Alglucosidase alfa / Spirometry / Medicine / Health / Pulmonary function testing

Neuromuscular Disorders xxx[removed]xxx–xxx Contents lists available at ScienceDirect Neuromuscular Disorders journal homepage: www.elsevier.com/locate/nmd

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2011-01-02 22:37:30
102Cellular processes / Autophagy / Programmed cell death / Rare diseases / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Lysosomal storage disease / Lysosome / Acid alpha-glucosidase / Biology / Anatomy / Muscular system

[Autophagy 3:6, [removed]; November/December 2007]; ©2007 Landes Bioscience Research Paper ©2007 LANDES BIOSCIENCE.BiDO NOT DISTRIBUTE.

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-08-10 22:44:52
103Infant feeding / Milk / Food science / Inborn errors of carbohydrate metabolism / Soy products / WIC / Enfamil / Infant formula / Milk allergy / Food and drink / Medicine / Health

Microsoft Word - Med doc October 2013.doc

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Source URL: health.hawaii.gov

Language: English - Date: 2014-02-05 14:10:27
104Rare diseases / Genetic genealogy / Hepatology / Genetics / Glycogen storage disease type II / Glycogen storage disease type V / Lysosomal storage disease / Acid alpha-glucosidase / Duchenne muscular dystrophy / Health / Inborn errors of carbohydrate metabolism / Medicine

ARTICLE The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease Paola de Filippi, PhD1, Sabrina Ravaglia, MD, PhD2, Bruno Bembi, MD3, Alfredo Costa,

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-04-02 02:44:57
105Inborn errors of carbohydrate metabolism / Health / Carbohydrates / Rare diseases / Mammalian target of rapamycin / Signal transduction / Glycogen storage disease type II / Glycogen / Sirolimus / Biology / Hepatology / Medicine

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-08-10 22:01:15
106Inborn errors of carbohydrate metabolism / Rare diseases / Glycogen storage disease type II / Lysosomal storage disease / Acid alpha-glucosidase / Enzyme replacement therapy / Glycogen / Medicine / Health / Hepatology

NIH Public Access Author Manuscript Neurotherapeutics. Author manuscript; available in PMC 2009 October 14. NIH-PA Author Manuscript

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-07-21 23:05:58
107Lysosomal storage diseases / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Hepatology / Acid alpha-glucosidase / Limb-girdle muscular dystrophy / Muscular dystrophy / Amyotrophic lateral sclerosis / Health / Rare diseases / Medicine

"DUB.ZPMPHJDBt999**Q EDITORIAL Early is better? A new algorithm for early diagnosis

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2014-02-22 17:32:25
108Chemical pathology / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Hepatology / Lysosomal storage disease / Acid alpha-glucosidase / Hypotonia / Alglucosidase alfa / Lactate dehydrogenase / Medicine / Health / Rare diseases

RESEARCH ARTICLE A Large-Scale Nationwide Newborn Screening Program for Pompe Disease in Taiwan: Towards Effective Diagnosis and Treatment Chia-Feng Yang,1 Hao-Chuan Liu,1 Ting-Rong Hsu,1,2 Fang-Chih Tsai,1 Sheng-Fong C

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2014-02-22 17:37:46
109Hepatology / Inborn errors of carbohydrate metabolism / Enzymes / Exercise physiology / Muscular system / Glycogen storage disease type II / Acid alpha-glucosidase / Glycogen / Muscle / Biology / Anatomy / Medicine

Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-08-10 23:04:01
110Rare diseases / Mental retardation / Epidemiology / Newborn screening / Inborn errors of carbohydrate metabolism / Phenylketonuria / Galactosemia / Urea cycle disorder / Biotinidase deficiency / Health / Medicine / Pediatrics

Newborn screening could save your Y ‘

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Source URL: health.hawaii.gov

Language: English - Date: 2013-04-30 19:27:38
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