Propionic acidemia

Results: 173



#Item
1Newborn 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
2Medical 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
3Propionic acidemia / Propionyl-CoA carboxylase / Genetic testing / Prenatal diagnosis / Health / Medicine / Rare diseases

J Med Genet 1999;36:412–[removed]Short reports

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Source URL: jmg.bmj.com

Language: English
4Medical genetics / Methylmalonic acidemia / Glutaric aciduria type 1 / Hyperlysinemia / Propionic acidemia / Health care provider / Insurance / Health / Rare diseases / Genetic genealogy

2013 General Session - Introduced Version - HB0145 - Insurance-coverage of phenylketonuria.

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Source URL: legisweb.state.wy.us

Language: English - Date: 2013-01-10 17:23:04
5Medical genetics / Methylmalonic acidemia / Glutaric aciduria type 1 / Hyperlysinemia / Health care provider / Propionic acidemia / Health / Rare diseases / Genetic genealogy

2013 General Session - Engrossed Version - HB0145 - Insurance-coverage of inherited enzymatic disorders.

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Source URL: legisweb.state.wy.us

Language: English - Date: 2013-02-04 17:12:23
6

:: Propionic acidemia Synonyms:  Ketotic glycinemia  Propionyl-CoA carboxylase deficiency The British Inherited Metabolic Disease Group (BIMDG) has published on its website guidelines

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Source URL: www.orpha.net

- Date: 2013-03-11 04:35:02
    7Amyotrophic lateral sclerosis / Rare diseases / Health / Propionic acidemia

    The Rare Disease Drug Discovery Accelerator

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    Source URL: www.partneringforcures.org

    Language: English - Date: 2014-12-02 14:03:09
    8Newborn screening / Mutation / Methylmalonic acid / Chromosome 6 / Propionic acidemia / MMAA / Health / Rare diseases / Methylmalonic acidemia

    RESEARCH NOTE Prenatal Identification of a novel mutation causing Methyl Malonic Acidemia in a family without proband. Ameya Paleja and Anuradha Udumudi

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    Source URL: www.ias.ac.in

    Language: English - Date: 2014-11-20 05:17:03
    9Newborn screening / Pediatrics / Propionic acidemia / Exposé / Nikki and Paulo / Today / 9 / Health / Rare diseases / Epidemiology

    June 1999 OAA Newsletter Editorial Happy Summer 1999! Here’s hoping the summer brings much health and happiness to your families! We’ve settled into our new house and Melissa is working on her social skills with the

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    Source URL: www.oaanews.org

    Language: English - Date: 2011-08-22 15:26:08
    10Medical 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
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