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DeCS
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Descriptor English:
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Citrullinemia
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Descriptor Spanish:
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Citrulinemia
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Descriptor Portuguese:
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Citrulinemia
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Synonyms English:
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Argininosuccinic Acid Synthase Deficiency Disease
Argininosuccinic Acid Synthetase Deficiency Disease
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Argininosuccinic Acid Synthetase Deficiency, Complete
Citrullinemia, Classical
Citrullinemia, Late-Onset
Citrullinemia, Neonatal
Citrullinemia, Type I
Citrullinuria
Complete Argininosuccinic Acid Synthetase Deficiency Disease
Deficiency, Argininosuccinic Acid Synthetase, Complete
Deficiency, Argininosuccinic Acid Synthetase, Partial
Partial Argininosuccinic Acid Synthetase Deficiency Disease
ASS Deficiencies
Argininosuccinate Synthetase Deficiencies
Citrullinemia, Late Onset
Citrullinemias
Citrullinemias, Classic
Citrullinemias, Classical
Citrullinemias, Late-Onset
Citrullinemias, Neonatal
Citrullinurias
Classic Citrullinemia
Classic Citrullinemias
Classical Citrullinemia
Classical Citrullinemias
Deficiencies, ASS
Deficiencies, Argininosuccinate Synthetase
Deficiency, ASS
Deficiency, Argininosuccinate Synthetase
Late-Onset Citrullinemia
Late-Onset Citrullinemias
Neonatal Citrullinemia
Neonatal Citrullinemias
Type 1, Citrullinemia
Argininosuccinate Synthase Deficiency Disease
Argininosuccinate Synthetase Deficiency
Argininosuccinic Acid Synthetase Deficiency
ASS Deficiency
Citrullinemia 1
Citrullinemia Type 1
Citrullinemia, Classic
Deficiency Disease, Argininosuccinate Synthase
Deficiency Disease, Argininosuccinic Acid Synthase
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Tree Number:
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C10.228.140.163.100.937.374
C16.320.565.100.940.374
C16.320.565.189.937.374
C18.452.132.100.937.374
C18.452.648.100.940.374
C18.452.648.189.937.374
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Definition English:
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A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) |
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See Related English:
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Argininosuccinate Synthase
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History Note English:
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2000
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Allowable Qualifiers English:
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Record Number:
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34230
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Unique Identifier:
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D020159
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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