Results 41 to 50 of about 25,995 (351)

Screening Mentally Retarded Children for Inborn Errors of Metabolism

Journal of Nepal Health Research Council, 2017
Background: Most inborn errors of metabolism result in mental retardation and death due to accumulation of abnormal metabolites in the tissues. The presence of abnormal metabolites in the urine of mentally retarded individuals has been used worldwide ...
Naveen K Shreevastava, Arti S Pandey
doaj   +1 more source

Neural correlates of working memory and its association with metabolic parameters in early-treated adults with phenylketonuria

NeuroImage: Clinical, 2022
Background: Phenylketonuria (PKU) is an inborn error of metabolism affecting the conversion of phenylalanine (Phe) into tyrosine. Previous research has found cognitive and functional brain alterations in individuals with PKU even if treated early ...
Stephanie Abgottspon, Raphaela Muri, Shawn E. Christ, Michel Hochuli, Piotr Radojewski, Roman Trepp, Regula Everts   +6 more
doaj   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Neonatal Seizures: When to Consider and How to Investigate for an Inborn Error of Metabolism

Proceedings of Singapore Healthcare, 2010
Seizures occur more frequently in the neonatal period than in the remainder of childhood. Neonatal seizures can have different aetiologies. Inborn errors of metabolism are rare causes of seizures in the newborn.
Derrick Wei Shih Chan B Med Sci, MRCPCH (UK), Ee Shien Tan MBBS, MRCPCH (UK), Maureen Anne Cleary MD, MRCP (UK)   +2 more
doaj   +1 more source

Microphysiological Systems of Lymphatics and Immune Organs

Advanced Healthcare Materials, EarlyView.
This review surveys recent progress in engineering lymphatic microenvironments and immune organoids within microphysiological systems, emphasizing innovative strategies to recreate the biochemical and biophysical complexity of native lymphatic tissues.
Ishita Jain, Ankur Singh, Andrés J. García   +2 more
wiley   +1 more source

INBORN ERRORS OF METABOLISM AND METABOLIC WORK-UP IN AUTISM SPECTRUM DISORDERS

Slovenska pediatrija, 2021
Autism spectrum disorders are complex developmental dis-orders characterised by disturbances in social interactions, verbal and non-verbal communication and imagination.
Anja Krivec Penič, Živa Prijatelj, Manca Ločičnik, Mojca Žerjav Tanšek   +3 more
doaj   +1 more source

Progressive Insights into 3D Bioprinting for Corneal Tissue Restoration

Advanced Healthcare Materials, EarlyView.
This review explores the potential of 3D bioprinting to replicate the complex structure and function of the human cornea. It highlights key advances in bioink development, printing modalities, and in vivo performance, while addressing current challenges and emerging strategies. The review emphasizes bioprinting's promise to overcome donor shortages and
Ilayda Namli, Deepak Gupta, Yogendra Pratap Singh, Pallab Datta, Muhammad Rizwan, Mehmet Baykara, Ibrahim T. Ozbolat   +6 more
wiley   +1 more source

Probiotic‐Based Materials as Living Therapeutics

Advanced Materials, EarlyView.
Recent advances in Engineered Living Materials are highlighted, integrating synthetic biology and advanced materials, with a focus on probiotic‐based therapeutics. Probiotic Living Materials hold great potential for biosensing, infection treatment, osteogenesis, wound healing, vaginal and gastrointestinal disorders, and cancer therapy. breakthroughs in
Laura Sabio, Graham J. Day, Manuel Salmeron‐Sanchez   +2 more
wiley   +1 more source

Propionic acidemia presenting as encephalopathy, hyper-ammonemia, recurrent pulmonary hemorrhage: A case report

Journal of Pediatric Critical Care, 2020
The metabolic crisis due to inborn error of metabolism can present as an isolated entity or along with the underlying sepsis at any age in children. Here, we present 14 months old boy born of third-degree consanguinity, apparently healthy in the past ...
Ramaning Loni, Sachin Tapal, B Anita, Mahesh Kamale, LaxmanLaxman H Bidari   +4 more
doaj   +1 more source