Isovaleric acidemia

Results: 160



#Item
1Health / Medicine / Rare diseases / Clinical medicine / Malonyl-CoA decarboxylase deficiency / Glutaric aciduria type 1 / Isobutyryl-coenzyme A dehydrogenase deficiency / Isovaleric acidemia / Inborn error of metabolism / Hyperammonemia / 2-Methylbutyryl-CoA dehydrogenase deficiency / Newborn screening

IMD Program List of Disorders, Covered Drugs, Supplements and Specialty Foods

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Source URL: www.health.gov.on.ca

Language: English - Date: 2016-03-07 08:48:57
2Newborn screening / Isovaleric acidemia / Methylmalonic acidemia / Acyl CoA dehydrogenase / Biotinidase deficiency / Galactosemia / Methylmalonic acid / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Guthrie test / Health / Rare diseases / Medicine

Newborn Screening Year in Review 86,586 For Babies Born in 2013 Bloodspot Samples Received Initial

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Source URL: www.azdhs.gov

Language: English - Date: 2015-01-29 18:14:10
3Newborn screening / Isovaleric acidemia / Galactosemia / Methylmalonic acidemia / Propionic acidemia / Malonyl-CoA decarboxylase deficiency / Inborn error of metabolism / Argininosuccinic aciduria / Organic acidemia / Health / Rare diseases / Medicine

TIMELINESS OF NEWBORN SCREENING – DACHDNC LABORATORY STANDARDS AND PROCEDURES SUBCOMMITTEE DRAFT FINDINGS AND PROPOSED RECOMMENDATIONS Kellie Kelm, PhD

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Source URL: www.hrsa.gov

Language: English
4Medical genetics / Newborn screening / Isovaleric acidemia / Propionic acidemia / Methylmalonic acidemia / Fatty-acid metabolism disorder / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Galactosemia / Malonyl-CoA decarboxylase deficiency / Health / Rare diseases / Genetic genealogy

Timeliness of Newborn Screening – DACHDNC’s laboratory standards and procedures subcommittee draft findings

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Source URL: www.hrsa.gov

Language: English
5Newborn screening / Isovaleric acidemia / Methylmalonic acidemia / Acyl CoA dehydrogenase / Biotinidase deficiency / Galactosemia / Methylmalonic acid / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Guthrie test / Health / Rare diseases / Medicine

Newborn Screening Year in Review 86,586 For Babies Born in 2013 Bloodspot Samples Received Initial

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Source URL: azdhs.gov

Language: English - Date: 2015-01-29 18:14:10
6Pediatrics / Epidemiology / Newborn screening / Mental retardation / Medical tests / Screening / Methylmalonic acidemia / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Isovaleric acidemia / Health / Medicine / Rare diseases

Microsoft Word - Newborn Screening framework_FINAL.doc

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Source URL: www.genomics.health.wa.gov.au

Language: English - Date: 2006-08-01 23:11:14
7Medical genetics / Newborn screening / Isovaleric acidemia / Methylmalonic acidemia / Propionic acidemia / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Fatty-acid metabolism disorder / Acyl CoA dehydrogenase / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Genetic genealogy

Disorders and Reference Ranges

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Source URL: www.azdhs.gov

Language: English - Date: 2014-12-15 13:01:02
8Medical genetics / Newborn screening / Isovaleric acidemia / Methylmalonic acidemia / Propionic acidemia / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Fatty-acid metabolism disorder / Acyl CoA dehydrogenase / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Genetic genealogy

Disorders and Reference Ranges

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Source URL: azdhs.gov

Language: English - Date: 2014-12-15 13:01:02
9Medical genetics / Newborn screening / Methylmalonic acidemia / Propionic acidemia / Biotinidase deficiency / Isovaleric acidemia / Maple syrup urine disease / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Congenital hypothyroidism / Health / Rare diseases / Genetic genealogy

NOTICE OF PROPOSED RULEMAKING

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Source URL: www.azdhs.gov

Language: English - Date: 2014-10-30 12:17:31
10Rare diseases / Newborn screening / Methylmalonic acidemia / Thiolase / Propionic acidemia / Isovaleric acidemia / Malonyl-CoA / Glutaric aciduria type 1 / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Health / Genetic genealogy / Medical genetics

Missouri Newborn Screening Disorders Tested Biotinidase deficiency (BIOT) Classical galactosemia (GALT) Congenital adrenal hyperplasia (CAH) Congenital primary hypothyroidism (CH) Cystic fibrosis (CF)

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Source URL: health.mo.gov

Language: English - Date: 2013-07-10 12:04:01
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