Citrullinemia

Results: 30



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21Rare 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: health.mo.gov

Language: English - Date: 2007-09-13 15:35:42
22Biology / 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: chfs.ky.gov

Language: English - Date: 2014-08-09 12:23:50
23Health / 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: chfs.ky.gov

Language: English - Date: 2014-08-09 08:46:16
24Biology / 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: chfs.ky.gov

Language: English - Date: 2014-08-09 04:53:40
25Biology / 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: chfs.ky.gov

Language: English - Date: 2014-08-09 06:42:46
26Rare 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.state.tn.us

Language: English - Date: 2006-10-30 12:08:43
27Citrullinemia / Biology / Metabolism / Urea cycle / Urea cycle disorder

Join us in sunny California for the 2014 NUCDF Family Conference! The National Urea Cycle Disorders Foundation Annual Conference is the only event of its kind in the world exclusively about urea cycle disorders. This yea

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Source URL: www.nucdf.org

Language: English - Date: 2014-04-01 21:30:01
28Rare diseases / Medical terms / Epidemiology / Newborn screening / Pediatrics / Urea cycle disorder / Hyperammonemia / Citrullinemia / Argininosuccinic aciduria / Medicine / Health / Urea cycle

American College of Medical Genetics ACT SHEET

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Source URL: www.ncbi.nlm.nih.gov

Language: English
29

Microsoft Word - Citrullinemia final[removed]translated by MBJ.doc

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Source URL: www.newbornscreening.info

Language: Spanish - Date: 2011-03-21 20:33:45
    30Health / Urea cycle disorder / Argininosuccinate synthase / Citrullinemia / N-Acetylglutamate synthase deficiency / Hyperammonemia / Ornithine transcarbamylase deficiency / Argininosuccinic aciduria / Argininemia / Urea cycle / Metabolism / Biology

    PDF Document

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    Source URL: rarediseasesnetwork.epi.usf.edu

    Language: English - Date: 2003-12-03 18:40:58
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