Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.

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Title: Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.
Authors: AlSayed M; Department of Medical Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia., Al Rasadi K; Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., AlDhaheri NS; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates., Al-Hussaini A; Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.; Children's Specialized Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia., Awaji A; Genetic Center, Prince Mohammed Ben Naser Hospital, Jazan, Kingdom of Saudi Arabia., Al Tenaiji A; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Bzeizi KI; Department of Liver Transplantation, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Miqdady M; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Pediatric Gastroenterology, Hepatology, and Nutrition, College of Medicine and Health Sciences, Khalifa University, Abu Dhabi, United Arab Emirates., Al Hashmi N; National Genetic Center, and Department of Pediatrics, Royal Hospital, Muscat, Oman., Alfadhel M; Genetic and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia. dralfadhelm@gmail.com.; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Kingdom of Saudi Arabia. dralfadhelm@gmail.com.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Dec 05; Vol. 21 (1), pp. 9. Date of Electronic Publication: 2025 Dec 05.
Publication Type: Journal Article; Review
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1750-1172
DOI:10.1186/s13023-025-04158-5