Results 11 to 20 of about 2,438 (157)

Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease [PDF]

Turkish Journal of Hematology, 2017
Aynur Küçükçongar Yavaş, Betül Orhaner, Pınar Genç, Nevin Kılıç, Hakan Erdoğan, Özlem Özdemir, Arzu Ekici   +6 more
doaj   +2 more sources

Wolman disease in an infant. [PDF]

BMJ Case Rep, 2014
A 5-month-old male infant was referred to our department for evaluation of abdominal distension and failure to thrive. Clinical examination revealed hepatosplenomegaly. High cholesterol and triglyceride levels, pancytopenia and abnormal liver function were found on blood examination. Bone marrow aspirate demonstrated vacuolated macrophages.
Shenoy P, Karegowda L, Sripathi S, Mohammed N.   +3 more
europepmc   +4 more sources

The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders [PDF]

Metabolites
Background: Lysosomal storage disorders (LSDs) are rare inherited metabolic diseases characterized by defects in lysosomal enzyme function or membrane transport. These defects lead to substrate accumulation and multisystemic manifestations.
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Alberto B. Burlina   +5 more
doaj   +2 more sources

A rare constellation of imaging findings in Wolman disease. [PDF]

Med J Armed Forces India, 2015
Sen D, Satija L, Saxena S, Rastogi V, Singh M.   +4 more
europepmc   +2 more sources

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa. [PDF]

J Inherit Metab Dis
ABSTRACT Glycogen storage disease type Ia (GSDIa) is a rare, life‐threatening inherited carbohydrate metabolism disorder caused by biallelic pathogenic G6PC gene variants resulting in deficiency of glucose‐6‐phosphatase. DTX401 is an investigational AAV8 vector containing the human G6PC gene. DTX401‐CL301 is a pivotal, phase 3, double‐blind, randomized,
Mitchell JJ, Abdenur JE, de Boer F, Boyer M, Breilyn MS, Couce ML, De Leon DD, Derks TG, El-Gharbawy A, Haijer-Schreuder AB, Loechner K, Longo N, Lund AM, Olmos MAM, McCandless SE, de Oliveira BM, Mount M, Muschol N, Pytlak K, Radhakrishnan K, Riba-Wolman R, Rodriguez-Buritica DF, La Rosa A, Rossi A, Saavedra H, Santer R, Shayota B, Smit GPA, Moura De Souza CF, van der Klauw MM, Weinstein DA, Wolfsdorf JI, Blake A, Grimm AA, Mitragotri D, Rahman S, Turner-Bowker DM, Collis R.   +37 more
europepmc   +2 more sources

Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots

Molecular Genetics and Metabolism Reports, 2022
Background: Lysosomal acid lipase deficiency (LAL-D) is a phenotypic continuum between the severe Wolman disease and the attenuated cholesteryl ester storage disease (CESD).
Xinying Hong, Yicheng Chen, Marianne Barr, Michael H. Gelb   +3 more
doaj   +1 more source

Successful matched unrelated donor hematopoietic stem cell transplantation for infantile Wolman disease

Pediatric Hematology Oncology Journal, 2023
Introduction: Wolman disease is a rare genetic disorder with an autosomal recessive inheritance. A mutation in the LIPA gene causes lysosomal acid lipase (LAL) deficiency results in lipid storage and adrenal insufficiency.
Indira Jayakumar, Anupama Gude, Murarji Renangi, Soundaram Valliyappan, Venkateswaran Vellaichamy Swaminathan, Satishkumar Meena, Harika Varla, Rumesh Chandar, Ramya Uppuluri, Revathi Raj   +9 more
doaj   +1 more source

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P, other members of the expert group consortium.   +25 more
europepmc   +2 more sources

LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots

Molecular Genetics and Metabolism Reports, 2022
Lysosomal acid lipase deficiency (LAL-D) (OMIM: 278000) is a lysosomal storage disorder with two distinct disease phenotypes such as Wolman disease and cholesteryl ester storage disorder (CESD), characterized by an accumulation of endocytosed cholesterol
Mari Ohira, Marianne Barr, Torayuki Okuyama, Ryuichi Mashima   +3 more
doaj   +1 more source

Clinical guidelines for the management of children with lysosomal acid lipase deficiency

Педиатрическая фармакология, 2023
Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester storage ...
Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova   +32 more
doaj   +1 more source