AADC deficiency:財團法人罕見疾病基金會
財團法人罕見疾病基金會
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(AromaticL-aminoAcidDecarboxylaseDeficiency,AADC).。其他文章還包含有:「AromaticLaminoaciddecarboxylasedeficiency」、「AromaticL」、「Aromaticl」、「ClinicalFeaturesinAromaticL」、「ClinicalFeaturesinAromaticL」、「Consensusguidelineforthediagnosisandtreatmentof...」、「Symptomsandimpactsofaromaticl」、「Thegeneticandclinicalc...
查看更多 離開網站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 ...
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 ...
Aromatic l
https://medlineplus.gov
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells ...
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 ...
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 ...
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 ...
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 ...
The genetic and clinical characteristics of aromatic L
https://www.ncbi.nlm.nih.gov
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 ...