Inborn error of metabolism

Results: 125



#Item
61Fatty acids / Biochemistry / Coenzymes / Pediatrics / Inborn error of lipid metabolism / Rare diseases / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Fatty-acid metabolism disorder / Acyl CoA dehydrogenase / Biology / Metabolism / Chemistry

Microsoft Word - mcad_ref

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

Language: English - Date: 2007-06-25 16:36:44
62Newborn screening / Congenital adrenal hyperplasia / Galactosemia / Phenylketonuria / Biotinidase deficiency / Congenital hypothyroidism / 3-Methylcrotonyl-CoA carboxylase deficiency / Inborn error of metabolism / 2-Methylbutyryl-CoA dehydrogenase deficiency / Health / Medicine / Pediatrics

Title 15 - Mississippi Department of Health

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Source URL: msdh.ms.gov

Language: English - Date: 2014-03-27 09:48:48
63Fatty acids / Health / Coenzymes / Rare diseases / Inborn error of lipid metabolism / Fatty-acid metabolism disorder / Acyl CoA dehydrogenase / Short-chain acyl-coenzyme A dehydrogenase deficiency / Fatty acid metabolism / Chemistry / Biology / Metabolism

Microsoft Word - scad_ref

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

Language: English - Date: 2007-06-25 16:37:49
64Biology / Carnitine palmitoyltransferase I / Carnitine / CPT2 / Fatty-acid metabolism disorder / Myoglobinuria / Fatty acid metabolism / Carnitine-acylcarnitine translocase deficiency / Inborn error of lipid metabolism / Medicine / Hepatology / Health

Microsoft Word - cpt2_ref

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

Language: English - Date: 2007-06-25 16:36:03
65Autoantigens / Pediatrics / Branched-chain amino acids / Maple syrup urine disease / Branched-chain alpha-keto acid dehydrogenase complex / Newborn screening / Dihydrolipoamide dehydrogenase / Pyruvate dehydrogenase / Inborn error of metabolism / Health / Rare diseases / Medicine

Disease Name MAPLE SYRUP URINE DISEASE (MSUD) (BRANCHED-CHAIN KETOACIDURIA; BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY; MSUD; KETO ACID DECARBOXYLASE DEFICIENCY) Organic aciduria Classification:

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

Language: English - Date: 2007-06-25 16:37:11
66Health / Fatty acids / Metabolism / Rare diseases / Carnitine palmitoyltransferase I / Carnitine / Fatty-acid metabolism disorder / Fatty acid metabolism / Inborn error of lipid metabolism / Medicine / Hepatology / Chemistry

Microsoft Word - cpt1_ref

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

Language: English - Date: 2007-06-25 16:36:02
67Noonan syndrome / Hypotonia / Tourette syndrome / Treacher Collins syndrome / Kabuki syndrome / Inborn error of metabolism / Hunter syndrome / International Statistical Classification of Diseases and Related Health Problems / Down syndrome / Health / Syndromes / Medicine

Index of CPT Codes for Medical Home

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Source URL: www.geneticsinprimarycare.org

Language: English - Date: 2013-05-24 13:58:17
68Rare diseases / Epidemiology / Newborn screening / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Phenylketonuria / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Short-chain acyl-coenzyme A dehydrogenase deficiency / Inborn error of metabolism / Galactosemia / Health / Medicine / Pediatrics

CHAPTER 31 PDF p. 1 of 1 CHAPTER 31 (SB 31)

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Source URL: www.lrc.state.ky.us

Language: English - Date: 2001-05-18 14:22:18
69Newborn screening / Phenylketonuria / Galactosemia / Congenital adrenal hyperplasia / Congenital hypothyroidism / Biotinidase deficiency / Inborn error of metabolism / Genetic testing / PKU / Health / Medicine / Pediatrics

Phenylketonuria, Hypothyroidism and Other Metabolic/Genetic Defects

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Source URL: www.infanthearing.org

Language: English - Date: 2009-11-24 12:12:32
70Rare diseases / Newborn screening / Inborn error of lipid metabolism / Fatty-acid metabolism disorder / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Inborn error of metabolism / Medical genetics / Carnitine-acylcarnitine translocase deficiency / Isovaleric acidemia / Health / Medicine / Biology

Microsoft Word - RCPU Newborn Screening.doc

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Source URL: www.peds.ufl.edu

Language: English - Date: 2007-12-31 10:54:00
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