Literature DB >> 23969540

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

Beom Hee Lee1, Yoo-Mi Kim, Ja Hye Kim, Gu-Hwan Kim, Jae-Min Kim, Joo Hyun Kim, Kyu Ha Woo, Song Hyun Yang, Chong Jai Kim, In-Hee Choi, Han-Wook Yoo.   

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Year:  2015        PMID： 23969540     DOI： 10.1097/MPG.0b013e3182a95a42

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  6 in total

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

Authors:  M Bellusci; P Quijada-Fraile; D Barrio-Carreras; E Martin-Hernandez; M Garcia-Silva; B Merinero; B Perez; A Hernandez-Lain
Journal:  J Inherit Metab Dis       Date:  2017-05-02       Impact factor: 4.982

2.  Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.

Authors:  Jong Sub Choi; Hyeoh Won Yoo; Kyung Jae Lee; Jung Min Ko; Jin Soo Moon; Jae Sung Ko
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2016-03-22

3.  Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.

Authors:  Neeharika Nemani; Zhiwei Dong; Cassidy C Daw; Travis R Madaris; Karthik Ramachandran; Benjamin T Enslow; Cherubina S Rubannelsonkumar; Santhanam Shanmughapriya; Varshini Mallireddigari; Soumya Maity; Pragya SinghMalla; Kalimuthusamy Natarajanseenivasan; Robert Hooper; Christopher E Shannon; Warren G Tourtellotte; Brij B Singh; W Brian Reeves; Kumar Sharma; Luke Norton; Subramanya Srikantan; Jonathan Soboloff; Muniswamy Madesh
Journal:  Sci Signal       Date:  2020-04-21       Impact factor: 8.192

4.  Clinical value of liver and spleen shear wave velocity in predicting the prognosis of patients with portal hypertension.

Authors:  Yan Zhang; Da-Feng Mao; Mei-Wu Zhang; Xiao-Xiang Fan
Journal:  World J Gastroenterol       Date:  2017-12-07       Impact factor: 5.742

5.  Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Authors:  Eungu Kang; Yoon-Myung Kim; Minji Kang; Sun-Hee Heo; Gu-Hwan Kim; In-Hee Choi; Jin-Ho Choi; Han-Wook Yoo; Beom Hee Lee
Journal:  BMC Pediatr       Date:  2018-03-08       Impact factor: 2.125

6.  Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.

Authors:  Yi Gan; Fei Yu; Haining Fang
Journal:  Ital J Pediatr       Date:  2021-07-07       Impact factor: 2.638
  6 in total

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