肉碱棕榈酰转移酶1A缺乏症的非典型表现：肝脾肿大和肾肿大。 - Suppr

Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.

作者信息

Lee Beom Hee, Kim Yoo-Mi, Kim Ja Hye, Kim Gu-Hwan, Kim Jae-Min, Kim Joo Hyun, Woo Kyu Ha, Yang Song Hyun, Kim Chong Jai, Choi In-Hee, Yoo Han-Wook

机构信息

*Department of Pediatrics †Medical Genetics Center ‡Genome Research Center for Birth Defects and Genetic Disorders, Asan Medical Center, University of Ulsan College of Medicine §Green Cross Reference Laboratory ||Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

出版信息

J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):e19-22. doi: 10.1097/MPG.0b013e3182a95a42.

DOI:10.1097/MPG.0b013e3182a95a42

PMID:23969540

Abstract

摘要

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Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.肉碱棕榈酰转移酶1A缺乏症的非典型表现：肝脾肿大和肾肿大。

J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):e19-22. doi: 10.1097/MPG.0b013e3182a95a42.

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Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists.一名成年患者因高病理或生理需求加重而反复发生严重脂肪性肝炎，其肉碱棕榈酰转移酶1A缺乏：内科医生的过山车经历

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First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.首例携带纯合子点突变S113L的日本肉碱棕榈酰转移酶II缺乏症病例。

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[Clinical features and genetic analysis of a case with carnitine palmitoyltransferase 1A deficiency].

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Carnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variants.

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[Carnitine palmitoyltransferase I(CPT1) deficiency].肉碱棕榈酰转移酶I（CPT1）缺乏症

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):401-2.

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.肉碱棕榈酰转移酶1A（CPT 1A）的新型突变定义了肝肉碱棕榈酰转移酶I缺乏症的分子异质性。

Mol Genet Metab. 2004 May;82(1):59-63. doi: 10.1016/j.ymgme.2004.02.004.

Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency.饮食对肉碱棕榈酰转移酶II缺乏症患者运动耐力的影响。

Neurology. 2003 Aug 26;61(4):559-61. doi: 10.1212/01.wnl.0000078195.05396.20.

Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.由新的致病突变del1737C引发的新生儿型肉碱棕榈酰转移酶-II缺乏症尸检病例

Pathol Int. 2008 Jul;58(7):436-41. doi: 10.1111/j.1440-1827.2008.02250.x.

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World J Gastroenterol. 2017 Dec 7;23(45):8044-8052. doi: 10.3748/wjg.v23.i45.8044.

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.

J Inherit Metab Dis. 2017 Sep;40(5):751-752. doi: 10.1007/s10545-017-0041-7. Epub 2017 May 2.

Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.在以黄疸为肉碱棕榈酰转移酶1A缺乏症首发表现的患者中鉴定出的CPT1A基因新突变。

Pediatr Gastroenterol Hepatol Nutr. 2016 Mar;19(1):76-81. doi: 10.5223/pghn.2016.19.1.76. Epub 2016 Mar 22.

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Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.

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