Urea cycle disorder

Results: 86



#Item
21Biology / Urea cycle disorder / Argininosuccinate synthase / Ornithine transcarbamylase deficiency / Argininemia / Urea / Amino acid / Hyperammonemia / Arginine / Urea cycle / Metabolism / Chemistry

UREA CYCLE DISORDER GLOSSARY © National Urea Cycle Disorders Foundation 2013 A Allele: One of a pair of genes, situated on the same site on paired chromosomes, containing specific inheritable characteristics.

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Source URL: www.nucdf.org

Language: English - Date: 2013-06-25 20:36:12
22Chemistry / Urea cycle disorder / Argininemia / Arginase / Argininosuccinate synthase / Ornithine transcarbamylase deficiency / Argininosuccinic aciduria / Urea / Protein / Urea cycle / Metabolism / Biology

Urea cycle disorders A guide for patients, parents and families Contents Introduction ...................................................................................................3 Metabolic function..............

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Source URL: www.nucdf.org

Language: English - Date: 2013-06-28 19:21:06
23Amino acid / Maple syrup urine disease / Phenylketonuria / Newborn screening / Urea cycle disorder / Protein / Metabolism / Hypermethioninemia / Isobutyryl-coenzyme A dehydrogenase deficiency / Health / Medicine / Rare diseases

Overview of Newborn Screening for Amino Acid Disorders – For Parents What is newborn screening? Before babies go home from the nursery, they have a small amount of blood taken from their heel to test for a group of con

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Source URL: www.in.gov

Language: English - Date: 2014-10-22 10:08:32
24Metabolism / Biology / Urea cycle disorder / Argininosuccinic aciduria / Argininosuccinate synthase / Newborn screening / Argininosuccinate lyase / Fatty-acid metabolism disorder / Carbamoyl phosphate synthetase I deficiency / Health / Urea cycle / Rare diseases

Microsoft Word - ASAL 2013.doc

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Source URL: www.newbornscreening.info

Language: English - Date: 2014-05-21 21:47:42
25Biology / Urea cycle / Citrullinemia / Argininosuccinate synthase / Urea cycle disorder / Cholestasis / Jaundice / Hyperammonemia / Citrin / Medicine / Health / Hepatology

Microsoft Word - ass_type2

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

Language: English - Date: 2007-06-25 16:35:50
26Health / Rare diseases / Guanidines / Pediatrics / Argininosuccinate lyase / Genes / Urea cycle disorder / Argininosuccinic aciduria / Argininosuccinic acid / Urea cycle / Biology / Metabolism

ARGININOSUCCINIC ACIDURIA (ASA) REFERENCES (ARGININOSUCCINASE DEFICIENCY; ARGININOSUCCINATE LYASE DEFICIENCY; ASL DEFICIENCY; ARGININOSUCCINIC ACID LYASE DEFICIENCY[removed].

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

Language: English - Date: 2007-06-25 16:35:48
27Biology / Citrullinemia / Argininosuccinate synthase / Urea cycle disorder / Hyperammonemia / Argininosuccinic acid / Arginine / Newborn screening / Citrulline / Urea cycle / Metabolism / Chemistry

Disease Name CLASSIC CITRULLINEMIA (ASS) (CITRULLINEMIA, TYPE I; CTLN1; ARGININOSUCCINATE SYNTHETASE DEFICIENCY; ASS DEFICIENCY) Urea cycle defect Classification:

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

Language: English - Date: 2007-06-25 16:35:49
28Biology / Arginase / Argininemia / Urea cycle disorder / Newborn screening / Protein / Urea cycle / Metabolism / Health

Microsoft Word - Arginase deficiency 2013.doc

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Source URL: www.newbornscreening.info

Language: English - Date: 2014-05-21 21:47:39
29Chemistry / Arginase / Argininemia / Hyperammonemia / Urea cycle disorder / Argininosuccinate synthase / Ornithine / Arginine / Urea / Urea cycle / Metabolism / Biology

Classification: Inheritance: Population Incidence: Ethnic Incidence: Gene & Location:

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

Language: English - Date: 2007-06-25 16:35:48
30Biology / Health / Argininosuccinate synthase / Citrin / Urea cycle disorder / Hyperammonemia / Saheki / Ornithine transcarbamylase deficiency / Urea cycle / Metabolism / Citrullinemia

CLASSIC CITRULLINEMIA (ASS) REFERENCES (CITRULLINEMIA, TYPE I; CTLN1; ARGININOSUCCINATE SYNTHETASE DEFICIENCY; ASS DEFICIENCY) 1. 2.

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

Language: English - Date: 2007-06-25 16:35:49
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