Publications:

---

Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis.

Molecular Genetics And Metabolism Reports

Baronio, Federico F; Conti, Francesca F; Miniaci, Angela A; Carfagnini, Filomena F; Di Natale, Valeria V; Di Donato, Giulio G; Testi, Matthias M; Totaro, Camilla C; De Fanti, Alessandro A; Boenzi, Sara S; Dionisi-Vici, Carlo C; Esposito, Susanna S; Pession, Andrea A

Publication Date: 2022-03

Variant appearance in text: LIPA: 796G>T

PubMed Link: 35242567

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: LIPA: 796G>T; G266X

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

View BVdb publication page

---

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: LIPA: 796G>T; Gly266Ter; rs267607218

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: LIPA: Gly266*

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM7_ESM.xlsx, sheet 1
• 41392_2020_412_MOESM17_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics

Vrablik, Michal M; Tichý, Lukas L; Freiberger, Tomas T; Blaha, Vladimir V; Satny, Martin M; Hubacek, Jaroslav A JA

Publication Date: 2020

Variant appearance in text: LIPA: Gly266*

PubMed Link: 33133164

Variant Present in the following documents:

• Main text
• fgene-11-574474.pdf

View BVdb publication page

---

Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency.

Case Reports In Gastroenterology

Zharkova, Maria M; Nekrasova, Tatiana T; Ivashkin, Vladimir V; Maevskaya, Marina M; Strokova, Tatyana T

Publication Date: 2019

Variant appearance in text: LIPA: Gly266Term

PubMed Link: 31911762

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia.

Jimd Reports

Mayanskiy, Nikolay N; Brzhozovskaya, Ekaterina E; Pushkov, Alexander A; Strokova, Tatiana T; Vlasov, Nikolay N; Surkov, Andrej A; Gundobina, Olga O; Savostianov, Kirill K

Publication Date: 2019-07

Variant appearance in text: LAL: 796G>T

PubMed Link: 31392116

Variant Present in the following documents:

• Main text
• JMD2-48-75.pdf

View BVdb publication page

---

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.

Journal Of Inherited Metabolic Disease

Cappuccio, Gerarda G; Donti, Taraka R TR; Hubert, Leroy L; Sun, Qin Q; Elsea, Sarah H SH

Publication Date: 2019-05

Variant appearance in text: LIPA: 796G>T

PubMed Link: 30684275

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LIPA: G266X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: LIPA: G266X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 8

View BVdb publication page

---

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Hepatology (Baltimore, Md.)

Scott, Stuart A SA; Liu, Benny B; Nazarenko, Irina I; Martis, Suparna S; Kozlitina, Julia J; Yang, Yao Y; Ramirez, Charina C; Kasai, Yumi Y; Hyatt, Tommy T; Peter, Inga I; Desnick, Robert J RJ

Publication Date: 2013-09

Variant appearance in text: CESD: 796G>T

PubMed Link: 23424026

Variant Present in the following documents:

• Main text

View BVdb publication page

---