Isovaleric acidemia

Results: 160



#Item
111Genetic genealogy / Newborn screening / Propionic acidemia / Methylmalonic acidemia / Isovaleric acidemia / Biotinidase deficiency / Maple syrup urine disease / Glutaric aciduria type 1 / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Medicine

Agency of Human Services  Division of Maternal and Child Health  Children with Special Health Needs  Vermont Newborn Screening Program REFUSAL TO CONSENT TO NEWBORN SCREENING

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Source URL: www.healthvermont.gov

Language: English - Date: 2011-07-21 16:18:35
112Chemistry / Mass spectrometry / Pediatrics / Epidemiology / Newborn screening / Chromatography / Isovaleric acidemia / Glutaric aciduria type 1 / Tandem mass spectrometry / Health / Medicine / Rare diseases

Tandem Mass Spectrometry in Newborn Screening - Joint Statement of ASHG and ACMG in JAMA

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Source URL: www.ashg.org

Language: English - Date: 2012-02-24 14:48:18
113Medical genetics / Newborn screening / Propionic acidemia / Methylmalonic acidemia / Isovaleric acidemia / Glutaric aciduria type 1 / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Biotinidase deficiency / Maple syrup urine disease / Health / Rare diseases / Genetic genealogy

2011 Newborn Screening data as of August 2012.xlsx

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Source URL: www.azdhs.gov

Language: English - Date: 2012-09-04 18:41:39
114Medical genetics / Newborn screening / Methylmalonic acidemia / Isovaleric acidemia / Propionic acidemia / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Methylmalonic acid / Maple syrup urine disease / Acyl CoA dehydrogenase / Health / Rare diseases / Genetic genealogy

Microsoft Word - MoD Fact Sheet 2011

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Source URL: www.azdhs.gov

Language: English - Date: 2012-04-12 12:46:55
115Rare diseases / Metabolism / Coenzymes / Hemoglobins / Methylmalonic acidemia / Isovaleric acidemia / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Malonyl-CoA / Carnitine / Health / Biology / Medicine

State AZ Person completing form Sondi Aponte, Quality Improvement Mgr.

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Source URL: www.azdhs.gov

Language: English - Date: 2012-04-12 12:46:53
116Medical genetics / Propionic acidemia / Isovaleric acidemia / Methylmalonic acidemia / Biotinidase deficiency / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Thiolase / Multiple carboxylase deficiency / Thalassemia / Health / Rare diseases / Genetic genealogy

2009 Summary including hearing.xlsx

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Source URL: www.azdhs.gov

Language: English - Date: 2012-04-12 12:46:56
117Methylmalonic acidemia / Newborn screening / Isovaleric acidemia / Methylmalonic acid / Acyl CoA dehydrogenase / Maple syrup urine disease / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Propionic acidemia

Arizona Department of Health Services Newborn Screening Program MSMS Pilot Project – Secondary Markers Amino Acid Disorders Analytes

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Source URL: www.azdhs.gov

Language: English - Date: 2013-07-03 16:56:45
118Medical genetics / Newborn screening / Propionic acidemia / Methylmalonic acidemia / Isovaleric acidemia / Glutaric aciduria type 1 / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Thiolase / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Genetic genealogy

2012 NBS Data--Final.xlsx

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Source URL: www.azdhs.gov

Language: English - Date: 2014-02-19 10:12:57
119Medical genetics / Newborn screening / Methylmalonic acidemia / Propionic acidemia / Isovaleric acidemia / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Maple syrup urine disease / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Methylmalonic acid / Health / Rare diseases / Genetic genealogy

NEWBORN SCREENING CONFIRMED CASE REPORT PRIMARY PANEL OF 29 DISORDERS DOB[removed] – [removed]Disorder Abbreviation

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Source URL: www.azdhs.gov

Language: English - Date: 2012-04-12 12:46:51
120Medical genetics / Newborn screening / Propionic acidemia / Methylmalonic acidemia / Isovaleric acidemia / Biotinidase deficiency / Glutaric aciduria type 1 / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Genetic genealogy

OFFICE OF NEWBORN SCREENING 2008 CONFIRMED CASE REPORT PRIMARY PANEL OF 28 BLOODSPOT DISORDERS DISORDER ANALYTE

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Source URL: www.azdhs.gov

Language: English - Date: 2012-04-12 12:46:54
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