Results 31 to 40 of about 2,214,124 (236)

Bone health in patients with inborn errors of metabolism

, 2018
Inborn errors of metabolism encompass a wide spectrum of disorders, frequently affecting bone. The most important metabolic disorders that primarily influence calcium or phosphate balance, resulting in skeletal pathology, are hypophosphatemic rickets and
Langeveld, M., Hollak, C. E. M.
core   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes—A Systematic Review

Metabolites
Background: Myoclonus, a sudden brief shock-like involuntary movement, represents a common yet under-recognized manifestation across many inherited metabolic disorders.
Elżbieta Majewska, Zofia Zdort, Aleksandra Ochocka, Justyna Paprocka   +3 more
doaj   +1 more source

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions: A Diagnostic Algorithm With Focus on Treatable Conditions [PDF]

, 2018
Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to ...
Nenad Blau, Carlos R. Ferreira, Horvath, Gabriella A, Bryan Sayson, Horvath, Gabriella A., Carlos R. Ferreira (6035918), Jessica J. Y. Lee, van Karnebeek, Clara D M, van Karnebeek, Clara D. M., Nenad Blau (3664690), Tseng, Laura A, Sayson, Bryan, Gabriella A. Horvath, Bryan Sayson (6035906), Gabriella A. Horvath (6035915), Ferreira, Carlos R, Ferreira, Carlos R., Clara D. M. van Karnebeek, Clara D. M. van Karnebeek (6035903), Lee, Jessica J Y, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Jessica J. Y. Lee (6035909), Laura A. Tseng (6035912), Laura A. Tseng   +25 more
core   +1 more source

Sitosterolemia with double variant in ABCG8 gene: a case report

Journal of Rare Diseases
Introduction Sitosterolemia is an autosomal recessive genetic disorder characterized by increased intestinal absorption of plant sterols. It is caused by pathogenic variants in the ABCG5 or ABCG8 genes, which encode subunits of transporters belonging to ...
Sara Isabel Noreña Gómez, Aura María Salazar-Solarte, María del Pilar Pereira Gómez, Susana Gómez Rojas, Juan Manuel Alfaro Velásquez   +4 more
doaj   +1 more source

Harnessing Large‐Scale Multi‐Omics Data for Risk Prediction and Deep Phenotyping of Valvular Heart Diseases in the General Population

Advanced Science, EarlyView.
Large‐scale UK Biobank analyses identify clinical and proteomic signatures for early prediction of valvular heart disease and its subtypes. Proteins add predictive value for VHD, AVS, and MVR, with outcome‐specific compact panels showing translational potential. Multi‐layer evidence highlights matrix remodeling, protease regulation, immune inflammation,
Zhihao Jiang, Yang Liu, Mingyu Song, Ning Chen, Canqing Yu, Jun Lv, Eric Yuk Fai Wan, Lu Qi, Liming Li, Dianjianyi Sun, Bang Zheng   +10 more
wiley   +1 more source

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD Reports, 2019
Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological ...
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber   +6 more
doaj   +1 more source

The BTB/POZ‐MATH Protein ZmBPM1 Interacts With Autophagy‐related Protein ZmATG6 and Modulates the NLR Protein Rp1‐D21‐Mediated Defense Response in Maize

Advanced Science, EarlyView.
The maize BTB/POZ‐MATH (BPM) protein ZmBPM1 interacts with autophagy‐related protein ZmATG6 to relocate the NLR protein Rp1‐D21 from the nucleo‐cytoplasmic compartment into autophagosome‐like puncta, leading to autophagy‐mediated turnover and suppressing the hypersensitive response.
Chang‐Xiao Tang, Tong‐Tong Liu, Qi‐Dong Ge, Xiao‐Ying Liu, Wanxiao Wang, Yang Sun, Yanfei Liu, Faqiang Li, Guan‐Feng Wang   +8 more
wiley   +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

Long‐Acting Therapeutics in Pediatric Health: Bridging Innovation and Access

Clinical Pharmacology &Therapeutics, EarlyView.
Children have distinct therapeutic needs arising from age‐dependent physiology, disease epidemiology, formulation requirements, dosing considerations, and safety vulnerabilities. Despite substantial reductions in childhood mortality over the past three decades, nearly 5 million children under five died in 2023, with infectious diseases continuing to ...
Prajith Venkatasubramanian, Moherndran Archary, Daniel B. Hawcutt, Rachel Daley, Edmund Capparelli, Adeniyi Olagunju   +5 more
wiley   +1 more source

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini, Mallorie P. Jenne, Michael L. Piacentino   +2 more
wiley   +1 more source