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- 1. フェニルケトン尿症の概要 overview of phenylketonuria
- 2. ステロイドの薬理学的使用 pharmacologic use of glucocorticoids
- 3. ステロイドの中断 glucocorticoid withdrawal
- 4. 新生児同種免疫性血小板減少症：母体の評価および妊娠中のマネージメント neonatal alloimmune thrombocytopenia parental evaluation and pregnancy management
- 5. 重症筋無力症患者に対する麻酔 anesthesia for the patient with myasthenia gravis
English Journal
- HPLC for confirmatory diagnosis and biochemical monitoring of Cuban patients with hyperphenylalaninemias.
- Contreras J1, Alonso E, Fuentes LE.
- MEDICC review.MEDICC Rev.2015 Jan;17(1):23-8.
- INTRODUCTION: Hyperphenylalaninemias are inborn errors of phenylalanine metabolism caused by deficiency of L-phenylalanine hydroxylase (the enzyme that converts phenylalanine to tyrosine), resulting in increased serum phenylalanine (>4 mg/dL or 240 µmol/L). Phenylketonuria, or PKU, is the most c
- PMID 25725765
- Cost-benefit analysis of hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency: for consideration of expanded newborn screening in Hong Kong.
- Lee HH1, Mak CM1, Poon GW2, Wong KY2, Lam CW3.
- Journal of medical screening.J Med Screen.2014 Jun;21(2):61-70. doi: 10.1177/0969141314533531. Epub 2014 May 6.
- OBJECTIVES: To evaluate the cost-benefit of implementing an expanded newborn screening programme for hyperphenylalaninemias due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency in Hong Kong.SETTING: Regional public hospitals in Hong Kong providing care for cases of inborn errors of metaboli
- PMID 24803483
- Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model.
- Imperlini E1, Orrù S, Corbo C, Daniele A, Salvatore F.
- Journal of neurochemistry.J Neurochem.2014 Jun;129(6):1002-12. doi: 10.1111/jnc.12683. Epub 2014 Mar 24.
- Phenylketonuria (PKU), if not detected and treated in newborns, causes severe neurological dysfunction and cognitive and behavioral deficiencies. Despite the biochemical characterization of PKU, the molecular mechanisms underlying PKU-associated brain dysfunction remain poorly understood. The aim of
- PMID 24548049
Japanese Journal
- High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias : a study of 1919 patients observed from 1988 to 2002
- Mol Genet Metab 77, 304-313, 2002
- NAID 30018902695
- 遺伝性高フェニルアラニン血症の治療 : 治療基準の設定とその改訂を中心に (特集 新生児マススクリーニング対象疾患の見直された治療法)
- 小児科 42(12), 1861-1868, 2001-11
- NAID 40019867306
- A new approach to the newborn screening for hyperphenylalaninemias: use of L-phenylalanine dehydrogenase and microtiter plates.
- Clinica Chimica Acta 192, 165-170, 1990
- NAID 30003254187
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