Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13685
Abstract: Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare, early‐onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age,… read more here.
Keywords: acid decarboxylase; decarboxylase deficiency; amino acid; aromatic amino ... See more keywords
Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview
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DOI: 10.1002/mgg3.1143
Abstract: Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which is characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been reported worldwide. read more here.
Keywords: acid decarboxylase; aromatic amino; amino acid; decarboxylase deficiency ... See more keywords
Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2023.1160879
Abstract: The subject of the study is an 11-month old IVF baby girl with the typical clinical manifestation of malonyl coenzyme A decarboxylase deficiency, including developmental delay, limb weakness, cardiomyopathy, and excessive excretion of malonic acid… read more here.
Keywords: malonyl coenzyme; coenzyme decarboxylase; decarboxylase deficiency; utr exon1 ... See more keywords