Results 71 to 80 of about 8,658 (196)

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Molecular Genetics and Metabolism Reports, 2017
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López, L. Ceberio-Hualde, J.S. García-Morillo, J.M. Grau-Junyent, A. Hermida Ameijeiras, M. López-Rodríguez, J.C. Milisenda, M. Moltó Abad, M. Morales-Conejo, J.J. Nava Mateos   +9 more
doaj   +1 more source

A multiplexed LC-MS/MS assay for comprehensive screening of amino acid metabolism disorders

Talanta Open
Advancements in liquid chromatography-tandem mass spectrometry (LC-MS/MS) are redefining the landscape of clinical diagnostics, particularly in the context of newborn screening for inborn errors of metabolism.
Jisha Chandran, Madan Gopal Ramarajan, Vykuntaraju Kammasandra Nanjundagowda, Aruna Gowdra, Jayesh Warade, Anikha Bellad, Kannan Rangiah   +6 more
doaj   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Microbial diversity and function in the rhizosphere microbiome: Driving forces and monitoring approaches

Agrosystems, Geosciences &Environment, Volume 8, Issue 3, September 2025.
Abstract As an ecological unit, the rhizosphere microbiome preserves an enormous and largely unexplored diversity of microbes that play essential roles in plant health and soil functions. Omics technologies encompassing high‐throughput approaches such as metagenomics, metatranscriptomics, and metaproteomics provide helpful tools to unravel the ...
Chinenyenwa Fortune Chukwuneme, Olubukola Oluranti Babalola   +1 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Personalized Genome‐Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients [PDF]

J Inherit Metab Dis
ABSTRACT Cobalamin (vitamin B12) is an essential cofactor for two human enzymes, methionine synthase and methylmalonyl‐CoA mutase. Inborn errors of cobalamin metabolism (IECMs) are inherited genetic defects resulting in improper transport, modification, or utilization of cobalamin and include inherited methylmalonic acidurias, a group of IECMs most ...
Heinken A, Awada H, Zanotelli V, Froese D, Guéant‐Rodriguez R, Guéant J.   +5 more
europepmc   +2 more sources

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism [PDF]

Archives of Disease in Childhood, 1961
Helen M. M. Mackay, B. Levin, V. G. Oberholzer   +2 more
openaire   +3 more sources

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of inherited metabolic diseases (IMD) characterized by defects in the synthesis and modification of glycoproteins and glycolipids. One of these disorders is ATP6AP1‐CDG, a rare X‐linked disease with approximately 30 cases reported so far. Symptoms associated with ATP6AP1‐CDG
Amirreza Jabbaripour Sarmadian, Babak Abdinia, Kia Seyed Toutounchi, Mohammad Saberi, Shabnam Eskandarzadeh   +4 more
wiley   +1 more source

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Pyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine. We present the case of an 11‐day‐old female neonate with a history of refractory multifocal seizures beginning on day three of life, accompanied by hepatomegaly, metabolic acidosis, elevated
Maryam Saeedi, Kayvan Mirnia, Sahar Sedighzadeh, Razieh Sangsari   +3 more
wiley   +1 more source

Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq

Oman Medical Journal, 2019
Objectives: We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types. Methods: We conducted a cross-sectional study in Misan, Iraq, over a period of one year.
Hassan A. Altimimi, Hussein F. Aljawadi, Esraa A. Ali   +2 more
doaj   +1 more source