Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Ranad Shaheen, Saud Alsahli, Nour Ewida, Fatema Alzahrani, Hanan E. Shamseldin, Nisha Patel, Awad Al Qahtani, Homoud Alhebbi, Amal Alhashem, Tarfa Al‐Sheddi, Rana Alomar, Eman Alobeid, Mohamed Abouelhoda, Dorota Monies, Abdulrahman Al‐Hussaini, Muneerah A. Alzouman, Mohammad Shagrani, Eissa Faqeih, Fowzan S. Alkuraya – 8 October 2019

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Hannah S. J. Choi, Willem P. Brouwer, Bettina E. Hansen, Harry L. A. Janssen, Keyur Patel – 8 October 2019

Fat Accumulation, Liver Fibrosis, and Metabolic Abnormalities in Chinese Patients With Moderate/Severe Versus Mild Hepatic Steatosis

Wei Zhang, Rui Huang, Yi Wang, Huiying Rao, Lai Wei, Grace L. Su, Anna S. Lok – 7 October 2019 – Several drugs in development for nonalcoholic fatty liver disease (NAFLD) aim to decrease the amount of fat in the liver. We compared quantity and quality of fat in subcutaneous, visceral and muscle compartments, liver fibrosis, and prevalence of metabolic abnormalities between Chinese patients with moderate/severe hepatic steatosis versus those with mild hepatic steatosis. NAFLD patients were prospectively recruited from Peking University People's Hospital in Beijing, China.

Longterm Outcomes of Living Donor Liver Transplantation for Glycogen Storage Disease Type 1b

Seiichi Shimizu, Seisuke Sakamoto, Reiko Horikawa, Akinari Fukuda, Hajime Uchida, Masahiro Takeda, Yusuke Yanagi, Rie Irie, Takako Yoshioka, Mureo Kasahara – 6 October 2019 – Glycogen storage disease (GSD) type 1b (Online Mendelian Inheritance in Man [OMIM] 232220) is an autosomal recessive inborn error of carbohydrate metabolism caused by defects in glucose‐6‐phosphate translocase. GSD1b patients have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll‐like face, and neutropenia.

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