AADC deficiency:Aromatic l
Aromatic l
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2008年5月1日—Aromaticl-aminoaciddecarboxylase(AADC)deficiencyisaninheriteddisorderthataffectsthewaysignalsarepassedbetweencertaincells ...。其他文章還包含有:「AromaticLaminoaciddecarboxylasedeficiency」、「AromaticL」、「ClinicalFeaturesinAromaticL」、「ClinicalFeaturesinAromaticL」、「Consensusguidelineforthediagnosisandtreatmentof...」、「Symptomsandimpactsofaromaticl」、「Thegeneticandclin...
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Aromatic L amino acid decarboxylase deficiency
https://www.orpha.net
AADC deficiency typically presents in infancy with muscular hypotonia, oculogyric crises, and developmental delay. Thermoregulation disturbances, autonomic ...
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Aromatic L
https://rarediseases.org
Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare genetic disorder characterized by decreased activity of aromatic l-amino acid ...
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Clinical Features in Aromatic L
https://www.ncbi.nlm.nih.gov
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic ...
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Clinical Features in Aromatic L
https://pubmed.ncbi.nlm.nih.go
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic ...
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Consensus guideline for the diagnosis and treatment of ...
https://ojrd.biomedcentral.com
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe ...
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Symptoms and impacts of aromatic l
https://ojrd.biomedcentral.com
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder, with an estimated prevalence of ...
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The genetic and clinical characteristics of aromatic L
https://www.ncbi.nlm.nih.gov
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What Is Aromatic L
https://www.webmd.com
AADC deficiency is an ultra-rare genetic disorder. It affects how your cells send signals to each other. People born with this condition ...
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財團法人罕見疾病基金會
https://www.tfrd.org.tw
分類代碼: 0120. 疾病類別: 01. 疾病名稱: 芳香族L-胺基酸類脫羧基酶缺乏症 ( Aromatic L-amino Acid Decarboxylase Deficiency, AADC ).