Urea cycle disorder

Results: 86



#Item
41Rare diseases / Phenylketonuria / Newborn screening / Urea cycle disorder / Hypermethioninemia / Maple syrup urine disease / Amino acid / Protein / Citrullinemia / Health / Medicine / Genetic genealogy

AMINO ACID DISORDERS Karla J Matteson, PhD, FACMG University of Tennessee Genetic Center, Knoxville Outcome without screening: The amino acid disorders are a collection of disorders that involve enzyme deficiencies that

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Source URL: health.tn.gov

Language: English - Date: 2006-10-30 12:08:43
42Rare diseases / Urea cycle disorder / Citrullinemia / Newborn screening / Medical genetics / Argininosuccinate synthase / Argininosuccinic aciduria / Carbamoyl phosphate synthetase I deficiency / Medicine / Health / Urea cycle

Citrullinemia (CIT) A urea cycle disorder What is it? Citrullinemia (also known as argininosuccinic acid synthetase deficiency (CIT)) is a urea cycle disorder. People with urea cycle disorders, like CIT, cannot properly

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Source URL: www.health.mo.gov

Language: English - Date: 2007-09-13 15:35:42
43Pediatrics / Epidemiology / Newborn screening / Medical genetics / Inborn error of metabolism / Methylmalonic acidemia / Urea cycle disorder / Isovaleric acidemia / Organic acidemia / Health / Medicine / Rare diseases

NEW Nutricia Metabolics_Logo CMYK

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Source URL: www.fodsupport.org

Language: English - Date: 2014-07-13 19:05:53
44Pediatrics / Epidemiology / Newborn screening / Medical genetics / Inborn error of metabolism / Methylmalonic acidemia / Urea cycle disorder / Isovaleric acidemia / Organic acidemia / Health / Medicine / Rare diseases

NEW Nutricia Metabolics_Logo CMYK

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Source URL: www.oaanews.org

Language: English - Date: 2014-07-13 16:04:14
45Medical genetics / Argininosuccinic aciduria / Urea cycle disorder / Newborn screening / Argininosuccinate lyase / Carbamoyl phosphate synthetase I deficiency / Glutaric acidemia type 2 / Health / Rare diseases / Genetic genealogy

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

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Source URL: www.health.mo.gov

Language: English - Date: 2009-02-03 16:51:23
46Biology / Nitrogen metabolism / Guanidines / Argininosuccinate synthase / Enzymes / Urea / Citrullinemia / Arginine / Ammonia / Chemistry / Urea cycle / Metabolism

PARENT FACT SHEET DISORDER Citrullinemia (CIT) CAUSE CIT occurs when an enzyme called “argininosuccinic acid synthetase” (ASAS), is either missing or not working

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Source URL: www.chfs.ky.gov

Language: English - Date: 2014-09-12 02:05:21
47Biology / Argininosuccinate synthase / Citrullinemia / Urea cycle disorder / Hyperammonemia / Argininosuccinic acid / Phenylketonuria / Arginine / Citrulline / Urea cycle / Metabolism / Chemistry

Disease Name Citrullinemia type II Alternate name(s) Acronym

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Source URL: www.chfs.ky.gov

Language: English - Date: 2014-09-11 03:36:05
48Health / Urea cycle disorder / Argininosuccinate synthase / Argininosuccinate lyase / Argininosuccinic aciduria / Argininosuccinic acid / Citrullinemia / Trichorrhexis nodosa / Hyperammonemia / Urea cycle / Metabolism / Biology

Disease Name Argininosuccinic Acidemia Alternate name(s) Acronym

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Source URL: www.chfs.ky.gov

Language: English - Date: 2014-09-09 06:57:25
49Biology / Argininosuccinate synthase / Citrullinemia / Urea cycle disorder / Hyperammonemia / Argininosuccinic acid / Phenylketonuria / Arginine / Citrulline / Urea cycle / Metabolism / Chemistry

Disease Name Citrullinemia type I Alternate name(s) Acronym

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Source URL: www.chfs.ky.gov

Language: English - Date: 2014-09-09 05:10:27
50Biology / Argininosuccinic aciduria / Arginine / Urea / Ammonia / Argininosuccinic acid / Protein / Urea cycle disorder / Ornithine transcarbamylase deficiency / Chemistry / Urea cycle / Metabolism

PARENT FACT SHEET DISORDER Argininosuccinic Acidemia (ASA) CAUSE ASA occurs when an enzyme called argininosuccinic acid lyase is either missing or not working

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Source URL: www.chfs.ky.gov

Language: English - Date: 2014-09-11 03:13:19
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