English Journal

The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.

Kasapkara ÇS1, Aycan Z2, Açoğlu E3, Senel S3, Oguz MM3, Ceylaner S4.
Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2017 Apr 1;30(4):459-462. doi: 10.1515/jpem-2016-0317.
PMID 28245189

[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].

Yang RL1, Tong F, Hong F, Qian GL, Wu DW, Zhao ZY.
Zhonghua er ke za zhi = Chinese journal of pediatrics.Zhonghua Er Ke Za Zhi.2017 Feb 2;55(2):104-109. doi: 10.3760/cma.j.issn.0578-1310.2017.02.010.
PMID 28173647

Rapid quantification of metabolic intermediates in blood by liquid chromatography-tandem mass spectrometry to investigate congenital lactic acidosis.

Peng M1, Cai Y1, Fang X2, Liu L3.
Analytica chimica acta.Anal Chim Acta.2016 Oct 26;942:50-57. doi: 10.1016/j.aca.2016.08.025. Epub 2016 Aug 21.
PMID 27720121

Japanese Journal

Refractory High Output Heart Failure in a Patient with Primary Mitochondrial Respiratory Chain Disease

Nakagawa Hitoshi,Takemura Genzou,Saito Yoshihiko,Okayama Satoshi,Kamon Daisuke,Nakano Tomoya,Onoue Kenji,Kawakami Rika,Horii Manabu,Sakaguchi Yasuhiro,Uemura Shiro
Internal Medicine 53(4), 315-319, 2014
… The patient was discharged, then readmitted for high output cardiac failure with hypotension and hyperlactacidemia. … The hyperlactacidemia completely resolved after amputation, and the high output cardiac failure has not recurred for two years. … High output cardiac failure is rare in MD patients and is related to myocardial abnormalities and hyperlactacidemia.<br> …
NAID 130003392649

青井良太,河野通彦,湯浅真由美 [他]
ICUとCCU = Japanese journal of intensive care medicine : 集中治療医学 37(8), 631-634, 2013-08
NAID 40019801863

田中進一郎,布宮伸,和田政彦,鯉沼俊貴,小山寛介
日本集中治療医学会雑誌 19(4), 655-660, 2012
血管内リンパ腫は，腫瘍細胞が種々の臓器の小血管内腔のみで増殖する悪性リンパ腫の稀な亜型で，通常，急速進行性で予後不良の疾患である。臨床症状は多彩かつ非特異的で，その可能性を疑わない限り診断は極めて困難である。今回，治療抵抗性ショックを呈したが血管内リンパ腫の診断に至り救命できた1例を経験した。症例は79歳の男性。食欲不振と発熱を初症状として発症し，激しい腹痛とショックを呈して当院に搬送された。当初 …
NAID 130004514455