Inborn error of metabolism

Results: 125



#Item
91Health / Inborn error of metabolism / TRICARE / Biology / Metabolism / Pediatrics / Medicine

April 30, 2014 The Honorable John Delaney 1632 Longworth House Office Building Washington, D.C[removed]Dear Mr. Delaney On behalf of the 30 million men, women, and children affected by one of the 7,000 known rare diseases

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Source URL: www.rarediseases.org

Language: English - Date: 2014-05-15 12:18:11
92Pediatrics / Newborn screening / Methylmalonic acidemia / Glutaric aciduria type 1 / Biotinidase deficiency / Isovaleric acidemia / Inborn error of metabolism / Galactosemia / Congenital hypothyroidism / Health / Medicine / Rare diseases

AN ACT RELATING TO HEALTH CARE; AMENDING A SECTION OF THE PUBLIC HEALTH ACT TO REQUIRE TESTING FOR CRITICAL CONGENITAL HEART DISEASE IN NEWBORN INFANTS. BE IT ENACTED BY THE LEGISLATURE OF THE STATE OF NEW MEXICO:

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Source URL: www.nmlegis.gov

Language: English - Date: 2014-03-03 18:02:18
93Organelles / ACOX1 / Acyl-CoA oxidase / Inborn error of metabolism / PECI / D-bifunctional protein deficiency / Biology / Peroxisomal disorders / Health

Climb National Information Centre for Metabolic Diseases Pseudo Neonatal Adrenoleukodystrophy Other names that may be used for this disorder are: 

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Source URL: www.climb.org.uk

Language: English - Date: 2014-07-08 10:39:58
94Rare diseases / Zellweger syndrome / Inborn error of metabolism / Disease / Infantile Refsum disease / Health / Medicine / Peroxisomal disorders

Climb National Information Centre for Metabolic Diseases Zellweger Syndrome Other names that may be used for this condition are: • Bowen Syndrome • Cerebrohepatorenal Syndrome

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Source URL: www.climb.org.uk

Language: English - Date: 2014-03-19 09:36:33
95Rare diseases / Pediatrics / Newborn screening / Galactosemia / Fatty-acid metabolism disorder / Inborn error of metabolism / Biotinidase deficiency / Propionic acidemia / Hyperammonemia / Health / Medicine / Genetic genealogy

HEEL STICK NEWS RAISING AWARENESS OF IOWA NEONATAL METABOLIC SCREENING PROGRAM (INMSP) OCTOBER 2003 “I like to think of

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

Language: English - Date: 2007-06-25 16:37:22
96Health / Pediatrics / Metabolism / Food and Drug Administration / Therapeutics / United States Public Health Service / Drug development / Inborn error of metabolism / Pharmaceutical sciences / Pharmacology / Medicine

Transcript, Public Meeting on Inborn Errors of Metabolism Patient-Focused Drug Development, June 10, 2014

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Source URL: www.fda.gov

Language: English
97Genetic genealogy / Inborn errors of carbohydrate metabolism / Hepatology / Pediatrics / Inborn error of metabolism / Isovaleric acidemia / Propionic acidemia / Methylmalonic acidemia / Glutaric aciduria type 1 / Health / Medicine / Rare diseases

Appendix[removed]C 86 Inborn Errors of Metabolism Inborn errors of metabolism generally refer to gene mutations or gene deletions that alter metabolism in the body, including but not limited to: Amino Acid Disorders

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Source URL: www.cdph.ca.gov

Language: English - Date: 2013-02-08 13:02:17
98Mental retardation / Phenylketonuria / Hepatology / Biotin / Congenital hypothyroidism / Screening / Neonatal jaundice / Inborn error of metabolism / Newborn screening / Health / Medicine / Pediatrics

R E P O R T Newborn Metabolic Screening in Alberta[removed]November 2006

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Source URL: www.health.alberta.ca

Language: English - Date: 2014-03-15 02:40:13
99Medical genetics / Newborn screening / Methylmalonic acidemia / Propionic acidemia / Isovaleric acidemia / Inborn error of lipid metabolism / Glutaric aciduria type 1 / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Genetic genealogy

Microsoft Word - Current News on Expanded Newborn Screening[removed]doc

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Source URL: chfs.ky.gov

Language: English - Date: 2014-08-09 12:19:04
100Newborn screening / Phenylketonuria / Galactosemia / Congenital adrenal hyperplasia / Congenital hypothyroidism / Biotinidase deficiency / Inborn error of metabolism / Genetic testing / PKU / Health / Medicine / Pediatrics

PDF Document

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Source URL: www.state.tn.us

Language: English - Date: 2013-01-02 12:32:31
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