Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.
about
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidasePolymorphisms in genes implicated in dopamine, serotonin and noradrenalin metabolism suggest association with cerebrospinal fluid monoamine metabolite concentrations in psychosis.Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.Ancillary investigations to diagnose parkinsonism: a prospective clinical study.The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
P2860
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P2860
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年學術文章
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name
Clinical and laboratory findin ...... acid decarboxylase deficiency.
@en
Clinical and laboratory findin ...... acid decarboxylase deficiency.
@nl
type
label
Clinical and laboratory findin ...... acid decarboxylase deficiency.
@en
Clinical and laboratory findin ...... acid decarboxylase deficiency.
@nl
prefLabel
Clinical and laboratory findin ...... acid decarboxylase deficiency.
@en
Clinical and laboratory findin ...... acid decarboxylase deficiency.
@nl
P2093
P356
P1433
P1476
Clinical and laboratory findin ...... acid decarboxylase deficiency.
@en
P2093
Bräutigam C
Heitmann F
Hoffmann GF
P304
P356
10.1055/S-2002-33673
P577
2002-06-01T00:00:00Z