Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.

Item
http://www.wikidata.org/entity/Q48090133
Aromatic L-amino acid decarboxylase (AADC) is crucial for brain development and motor functionsGenomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigraTreatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.Catecholamines 101Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes.Transgenic mouse models of dopamine deficiency.The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism.Neuroimaging findings in children with paediatric neurotransmitter diseases.Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.Aromatic amino Acid decarboxylase deficiency not responding to pyridoxine and bromocriptine therapy: case report and review of response to treatment.Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy.Folinic acid-responsive seizures presenting as breakthrough seizures in a 3-month-old boy.Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements.Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency.A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
P2860

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.

Item
http://www.wikidata.org/entity/Q48090133
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
@en
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
@nl
type
label
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
@en
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
@nl
prefLabel
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
@en
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921