Hyperammonemia

Results: 64



#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
2Rare diseases / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Hypoglycemia / Systemic primary carnitine deficiency / Newborn screening / Carnitine / ACADM / Ketotic hypoglycemia / Hyperammonemia / Health / Medicine / Hepatology

physician fact sheet Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD) Dr Janice Fletcher, MD, FRACP, BSc, Clinical Geneticist (HGSA), FRCPA

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Source URL: www.wch.sa.gov.au

Language: English - Date: 2009-03-30 00:40:37
3Glycine encephalopathy / Neurotransmitters / Hyperammonemia / Hyperglycinemia / Encephalopathy / Hypotonia / NMDA receptor / Glycine cleavage system / Glycine / Biology / Health / Chemistry

HK J Paediatr (new series) 2004;9:[removed]A Baby with Nonketotic Hyperglycinaemia HNT HUI, YC HO, HB CHAN, SCF TAM, NLS TANG, PLS IP

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Source URL: www.fmshk.com.hk

Language: English - Date: 2006-06-28 04:22:10
4Health / Urea cycle disorder / Ornithine transcarbamylase deficiency / Argininosuccinic aciduria / Hyperammonemia / Ornithine translocase deficiency / Arginase / Citrullinemia / N-Acetylglutamate synthase deficiency / Urea cycle / Metabolism / Biology

UCDC Newsletter_4.22.13_Final.pub

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Source URL: www.rarediseasesnetwork.org

Language: English - Date: 2013-04-23 17:35:32
5Orphan drugs / Medicine / Ofatumumab / Orphanet / Ponatinib / Dasatinib / Leukemia / Hyperammonemia / Carglumic acid / Chemistry / Organic chemistry / Piperazines

Ottobre[removed]Elenchi dei prodotti medicinali per le malattie rare in Europa*

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Source URL: www.orpha.net

Language: English - Date: 2014-11-03 09:45:01
6Newborn screening / Methylmalonic acidemia / Propionic acidemia / Isovaleric acidemia / Hyperammonemia / Glutaric aciduria type 1 / Thiolase / Methylmalonyl-CoA mutase / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Health / Rare diseases / Medicine

Microsoft Word - Canada NBS status Nov23.2006.doc

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Source URL: www.raredisorders.ca

Language: English - Date: 2009-06-26 12:21:32
7Newborn screening / Methylmalonic acidemia / Propionic acidemia / Isovaleric acidemia / Hyperammonemia / Glutaric aciduria type 1 / Thiolase / Maple syrup urine disease / Methylmalonyl-CoA mutase / Health / Rare diseases / Medicine

Newborn Screening in Canada Status Report – Page 1 of 3 - updated Nov. 11, 2010 ¹Follows format used by the U.S. National Newborn Screening & Genetics Resource Center A dot "" indicates that universal screening for

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Source URL: www.raredisorders.ca

Language: English - Date: 2010-11-11 13:21:56
8Genetic genealogy / Newborn screening / Methylmalonic acidemia / Isovaleric acidemia / Fatty-acid metabolism disorder / Hyperammonemia / 3-Methylglutaconic aciduria / Glutaric aciduria type 1 / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Health / Medicine / Rare diseases

Microsoft Word[removed]sheet 1.doc

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Source URL: www.cdph.ca.gov

Language: English - Date: 2013-09-30 16:56:07
9Enzymes / Carbonic anhydrase / Carbonic anhydrase inhibitors / Hyperammonemia / Propionyl-CoA carboxylase / Pyruvate carboxylase / Biotin / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Acetazolamide / Chemistry / Medicine / Health

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

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Source URL: www.tidebc.org

Language: English - Date: 2014-02-13 12:45:25
10Newborn screening / Methylmalonic acidemia / Multiple carboxylase deficiency / Isovaleric acidemia / Methylmalonic acid / Hyperammonemia / Organic acidemia / Maple syrup urine disease / Biotinidase deficiency / Health / Rare diseases / Medicine

2007 Newborn Screening Standards in Georgia (specifically methylmalonic acidemia)

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Source URL: www.oaanews.org

Language: English - Date: 2011-08-22 14:09:02
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