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1. フェニルケトン尿症の概要 overview of phenylketonuria
2. 神経芽細胞腫の臨床所見、診断、および病期分類評価 clinical presentation diagnosis and staging evaluation of neuroblastoma
3. 遺伝性感覚自律神経ニューロパチー hereditary sensory and autonomic neuropathies
4. ベックウィズ・ヴィーデマン症候群 beckwith wiedemann syndrome
5. 月経前症候群および月経前不快気分障害の疫学および病因 epidemiology and pathogenesis of premenstrual syndrome and premenstrual dysphoric disorder

Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

Molero-Luis M, Serrano M, Ormazábal A, Pérez-Dueñas B, García-Cazorla A, Pons R, Artuch R; Neurotransmitter Working Group.SourceNeurometabolic Unit, Hospital Sant Joan de Déu and Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
Developmental medicine and child neurology.Dev Med Child Neurol.2013 Jun;55(6):559-66. doi: 10.1111/dmcn.12116. Epub 2013 Mar 11.
AIM: To determine the prevalence of dopaminergic abnormalities in 1388 children with neurological disorders, and to analyse their clinical, neuroradiological, and electrophysiological characteristics.METHOD: We studied biogenic amines in 1388 cerebrospinal fluid (CSF) samples from children with neur
PMID 23480488

Simultaneous detection of diagnostic biomarkers of alkaptonuria, ornithine carbamoyltransferase deficiency, and neuroblastoma disease by high-performance liquid chromatography/tandem mass spectrometry.

Hsu WY, Chen CM, Tsai FJ, Lai CC.SourceDepartment of Medical Research, China Medical University Hospital, Taichung, Taiwan.
Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2013 May;420:140-5. doi: 10.1016/j.cca.2012.10.022. Epub 2012 Oct 16.
BACKGROUND: Urinary homovanillic acid (HVA)/vanillylmandelic acid (VMA), orotic acid (OA), and homogentisic acid (HGA) are diagnostic biomarkers of neuroblastoma, ornithine carbamoyl transferase deficiency (OCTD), and alkaptonuria (AKU), respectively. In this study, a high-performance liquid chromat
PMID 23085206

Contralateral retinal dopamine decrease and melatonin increase in progression of hemiparkinsonium rat.

Meng T, Zheng ZH, Liu TT, Lin L.SourceDepartment of Biochemistry and Molecular Biology, Fujian Medical University, Fuzhou 350004, China.
Neurochemical research.Neurochem Res.2012 May;37(5):1050-6. doi: 10.1007/s11064-012-0706-4. Epub 2012 Jan 18.
Both dopamine (DA) and melatonin (MLT) are abundant neuromodulators located in vertebrate retina. The retinal DA deficiency and variations in MLT levels have been linked to Parkinson's disease (PD). No studies have investigated the ipsilateral and contralateral DA and MLT in retina and their relatio
PMID 22252727

3,4-Dihydroxyphenylalanine(DOPA) Decarboxylase Deficiency and Resultant High Levels of Plasma DOPA and Dopamine in Unfavorable Neuroblastoma

IKEDA Hitoshi,MATSUYAMA Shiro,SUZUKI Norio,TAKAHASHI Atsushi,KUROIWA Minoru
Hypertension research : clinical and experimental : official journal of the Japanese Society of Hypertension 18, S209-S210, 1995-06-01
… The levels of plasma DOPA, dopamine, urinary homovanillic acid (HVA) and vanillactic acid (VLA) were significantly higher in patients with unfavorable NBs and the higher plasma DOPA level was significantly associated with the patients' age (>1 year old), tumor stage (III, IV) and DNA diploidy. … These results are compatible with the hypothesis on DOPA decarboxylase deficiency and DOPA secretion in undifferentiated, unfavorable NBs. …
NAID 10008736146