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Volumn 74, Issue 3, 2001, Pages 396-398
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Phenotype and genotype heterogeneity in Mediterranean citrullinemia
a
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Author keywords
Argininosuccinate synthetase deficiency; Citrullinemia; Hyperammonemia; Urea cycle
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Indexed keywords
ALANINE;
ARGININE;
ASPARTIC ACID;
CITRULLINE;
GLUTAMIC ACID;
GLUTAMINE;
GLYCINE;
ISOLEUCINE;
LEUCINE;
THREONINE;
VALINE;
ALLELE;
ARTICLE;
CITRULLINEMIA;
CLINICAL ARTICLE;
COMORBIDITY;
DIAGNOSTIC PROCEDURE;
DISEASE CLASSIFICATION;
DISEASE COURSE;
DOWN SYNDROME;
GENE MUTATION;
GENETIC ANALYSIS;
GENETIC HETEROGENEITY;
GENOTYPE;
HEPATIC ENCEPHALOPATHY;
HETEROZYGOTE;
HOMOZYGOTE;
HUMAN;
MALE;
PHENOTYPE;
PRIORITY JOURNAL;
SOUTHERN EUROPE;
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EID: 0035201707
PISSN: 10967192
EISSN: None
Source Type: Journal
DOI: 10.1006/mgme.2001.3221 Document Type: Article |
Times cited : (19)
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References (11)
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