A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency

Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Pediatr Gastroenterol Hepatol Nutr
Main Authors: Kim, Kwang Yeon, Kim, Ju Whi, Lee, Kyung Jae, Park, Eunhyang, Kang, Gyeong Hoon, Choi, Young Hun, Kim, Woo Sun, Ko, Jung Min, Moon, Jin Soo, Ko, Jae Sung
Format: Artigo
Jezik:Inglês
Izdano: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2017
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5750382/
https://ncbi.nlm.nih.gov/pubmed/29302509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5223/pghn.2017.20.4.263
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