Inborn errors of carbohydrate metabolism

Results: 280



#Item
91Genetics / Epidemiology / Newborn screening / Inborn errors of carbohydrate metabolism / Biotinidase deficiency / Biotinidase / Galactosemia / Biotin / Congenital adrenal hyperplasia / Health / Medicine / Pediatrics

Hygienic Laboratory The University of Iowa For Questions About Resubmission and Result Interpretation Contact Medical Consultants LABORATORY HOSPITAL

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:36:08
92Medicine / Biology / Galactose-1-phosphate uridylyltransferase deficiency / Galactose / Beutler test / Lactose / Milk / Galactosemic cataract / Inborn errors of carbohydrate metabolism / Galactosemia / Health

Galactosemia Galactosemia is an inherited disorder of galactose metabolism. The main dietary source of galactose is lactose, which is found in milk. Clinical features of Galactosemia are failure to thrive (most common in

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Source URL: www.maine.gov

Language: English - Date: 2011-11-10 05:37:56
93Epidemiology / Newborn screening / Pediatrics / Inborn errors of carbohydrate metabolism / Biotinidase deficiency / Biotinidase / Galactosemia / Biotin / C16 / Health / Genetics / Medicine

Hygienic Laboratory The University of Iowa For Questions About Resubmission and Result Interpretation Contact Medical Consultants LABORATORY HOSPITAL

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Source URL: www.idph.state.ia.us

Language: English - Date: 2007-06-25 16:36:08
94Milk / Food science / Sweeteners / Inborn errors of carbohydrate metabolism / Lactose intolerance / Gastroenterology / Lactose / Camel milk / Lactase / Medicine / Health / Food and drink

Revista Alergia México 2010;57(1):[removed]Original article Consumption of camel’s milk by patients intolerant to lactose. A preliminary study Ronald RA Cardoso,* RMDB Santos,** CRA Cardoso,*** MO Carvalho****

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Source URL: www.medigraphic.com

Language: English - Date: 2010-11-23 20:04:54
95Autophagy / Programmed cell death / Inborn errors of carbohydrate metabolism / Rare diseases / Hepatology / Glycogen storage disease type II / Acid alpha-glucosidase / Lysosomal storage disease / Lysosome / Biology / Cell biology / Cellular processes

NIH Public Access Author Manuscript Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2013 February 15. NIH-PA Author Manuscript

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2014-03-02 20:04:03
96Hepatology / Gene delivery / Applied genetics / Inborn errors of carbohydrate metabolism / Rare diseases / Glycogen storage disease type II / Adeno-associated virus / Acid alpha-glucosidase / Gene therapy / Biology / Medicine / Health

THE JOURNAL OF GENE MEDICINE RESEARCH ARTICLE J Gene Med 2010;12: 881–891. Published online 22 October 2010 in Wiley Online Library (wileyonlinelibrary.com) DOI: [removed]jgm[removed]Antibody formation and mannose-6-phosp

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2011-06-06 01:04:00
97Rare diseases / Lysosomal storage diseases / Lipid storage disorders / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Hepatology / Autophagy / Acid alpha-glucosidase / Enzyme replacement therapy / Biology / Health / Anatomy

Journal List > NIHPA Author Manuscripts Mol Genet Metab. Author manuscript; available in PMC 2010 December 1. Published in final edited form as: Mol Genet Metab[removed]December; 101(4): 324–331. Published online 2010 Au

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2011-05-07 19:52:59
98Muscular system / Biopsy / Rare diseases / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Hepatology / Enzyme replacement therapy / Muscle / Autophagy / Medicine / Anatomy / Biology

Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2013-07-21 20:16:24
99Inborn errors of carbohydrate metabolism / Enzymes / Rare diseases / Glycogen storage disease type II / Alpha-glucosidase / Maltase / Erasmus MC / Medical genetics / Glycogen storage disease / Medicine / Health / Hepatology

Register or Login: Password: Search This Periodical

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-08-10 22:40:31
100Pregnancy / Lysosomal storage diseases / Rare diseases / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Acid alpha-glucosidase / Enzyme replacement therapy / Medical genetics / Maternal-fetal medicine / Medicine / Health / Obstetrics

Hindawi Publishing Corporation Case Reports in Obstetrics and Gynecology Volume 2012, Article ID[removed], 4 pages doi:[removed][removed]Case Report

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2013-05-26 18:31:57
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