Results 51 to 60 of about 1,718,768 (214)

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +1 more source

Screening for inborn errors of metabolism : report of a WHO scientific group [meeting held in Geneva from 20 to 26 November 1967] [PDF]

, 1968
Copy 2 of English, French and Spanish eds.
World Health Organization, WHO Scientific Group on Screening for Inborn Errors of Metabolism   +1 more
core  

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

Update on Neuropathies in Inborn Errors of Metabolism

, 2021
Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet.
Renata Pająk, Natalia Będkowska, Ewelina Mendela, Justyna Paprocka   +3 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

Secondary and Tertiary Prevention of Inborn Errors of Metabolism

, 2020
This thesis is focused on understanding inborn errors of metabolism, secondary and tertiary prevention of them, and also a feature addressing the limitations to effective management in developing world countries.
Olaosebikan, Kikelomo Olamide
core  

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source

Clinical pathways for inborn errors of metabolism: warranted and feasible [PDF]

, 2013
Contains fulltext : 118156.pdf (Publisher’s version ) (Open Access)Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion.
van Kessel Imke N, van Kessel, Imke N., Bosch Annet M, Bosch, Annet M., Korndewal Marjolein J, Meutgeert Hanka, Hollak, Carla E. M., Kessel, I.N. van, Bosch, A.M., Janssen, M.C.H., Morava, E., Marjolein J Korndewal, Imke N van Kessel, Serwet Demirdas, Demirdas, Serwet, Klaren, Anja, Spronsen, F.J. van, Anja Klaren, Hollak, C.E.M., Margreet van Rijn, Rijn, M. van de, Carla EM Hollak, van Rijn Margreet, Meutgeert, Hanka, van Rijn, Margreet, Hanka Meutgeert, van Spronsen Francjan J, Klaren, A., Meutgeert, H., Dutch Working Grp, Korndewal, Marjolein J., Korndewal, M.J., null null, Demirdas, S., Klaren Anja, Francjan J van Spronsen, Annet M Bosch, Hollak Carla EM, van Spronsen, Francjan J., et al., Demirdas Serwet   +40 more
core   +3 more sources