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[Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature].
Zhonghua Er Ke Za Zhi
January 2023
Department of Infectious Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
To summarize the genotypes and clinical characteristics of homozygous family hypobetalipoproteinemia (Ho-FHBL) caused by apolipoprotein B (APOB) gene variations. The clinical, laboratory, genetic, and liver histology data of a boy with Ho-FHBL managed in the hepatology ward of the Children's Hospital of Fudan University in May 2021 were retrospectively analyzed. The literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, China VIP database, China Biology Medicine disc and PubMed database (up to May 2022) with "familial hypobetalipoproteinemia" or "hypobetalipoproteinemias" or "hypo beta lipoproteinemia" or "hypolipoproteinemias" as the search terms.
View Article and Find Full Text PDFAbetalipoproteinemia Due to a Novel Splicing Variant in in 3 Siblings.
J Investig Med High Impact Case Rep
October 2021
Western University, London, Ontario, Canada.
Abetalipoproteinemia (ABL) is a rare recessive condition caused by biallelic loss-of-function mutations in the gene encoding the microsomal triglyceride transfer protein large subunit. ABL is characterized by absence of apolipoprotein B-containing lipoproteins and deficiencies in fat-soluble vitamins leading to multisystem involvement of which neurological complications are the most serious. We present 3 siblings with ABL who were born to non-consanguineous parents of Filipino and Chinese background.
View Article and Find Full Text PDFSuccessful Nutritional Intervention for an Infant with Abetalipoproteinemia: A Novel Modular Formula (AbetaMF).
JPGN Rep
February 2021
Departments of Pediatrics and Medicine, Cardiovascular Research Institute, University of California School of Medicine, San Francisco, CA.
Supplemental Digital Content is available in the text.
View Article and Find Full Text PDFChronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series.
J Clin Immunol
July 2020
Pediatric Immuno-Hematology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades University Hospital, Paris, France.
Background: X-linked chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the CYBB gene (located on Xp21.1). Patients with large deletions on chromosome Xp21.
View Article and Find Full Text PDFAn Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia.
J Pediatr Hematol Oncol
April 2021
Departments of Child Health.
We report a probable case of abetalipoproteinemia in an infant who presented with unusual symptoms of late-onset vitamin K deficiency. Abetalipoproteinemia is a rare autosomal recessive disease caused by mutation of the microsomal triglyceride transfer protein gene, resulting in the absence of microsomal triglyceride transfer protein function in the small bowel. It is characterized by the absence of plasma apolipoprotein B-containing lipoproteins, fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy, myopathy, and acanthocytosis.
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