AADC deficiency

The genetic and clinical characteristics of aromatic L

https://www.ncbi.nlm.nih.gov

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 ).

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...