Results 71 to 80 of about 585 (187)

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances

Disease Models & Mechanisms, 2023
Shira G. Ziegler, Jiyoung Kim, Jeffrey T. Ehmsen, Hilary J. Vernon   +3 more
doaj   +1 more source

Sophie Claiborne's Upset Stomach - an Ornithine Transcarbamoylase Deficiency Problem-Based Learning Case

MedEdPORTAL, 2007
This resource is a problem-based learning (PBL) case featuring a female patient who has problems with food containing protein. As the case progresses it becomes evident that there is a problem handling any quantity of protein and that this problem may be
Marshall Anderson, Mary Kirkish
doaj   +1 more source

Nonthermal plasma approaches for combating implant‐associated infections: A compendious review

VIEW, EarlyView.
Implant‐associated infections pose serious clinical challenges. Non‐thermal plasma (NTP) modifications overcome this bottleneck in distinct ways relative to traditional sterilization methods. Gas‐phase plasmas generate highly energetic species, UV radiation and reactive oxygen/nitrogen species (RONS), which alter the implant surface properties.
A. M. Trimukhe, Satish Rojekar, Amol Gholap, K. Navaneetha Pandiyaraj, Mukesh Patekar, Claudia Riccardi, R. R. Deshmukh, Tomáš Kovářík, Kalim Deshmukh   +8 more
wiley   +1 more source

Long-Chain Polyunsaturated Fatty Acids in Inborn Errors of Metabolism

, 2010
The treatment of children with inborn errors of metabolism (IEM) is mainly based on restricted dietary intake of protein-containing foods. However, dietary protein restriction may not only reduce amino acid intake, but may be associated with low intake ...
Tamás Decsi, Katalin Fekete
core   +1 more source

Modeling Hereditary Angioedema With Personalized EPSC‐Derived Hepatocytes: A CRISPR‐Validated Platform for Mutation‐Specific Mechanisms and Therapeutic Innovation

Allergy, EarlyView.
Patient‐derived expanded potential stem cell (EPSC) hepatocytes reveal that pathogenic SERPING1 variants cause distinct cellular defects in hereditary angioedema. While most mutations reduce SERPING1 transcription and C1‐INH secretion, a large deletion induces intracellular C1‐INH retention.
Xueyan Liu, Yuxin Wang, Jane C. Y. Wong, Xiang Zhang, Cuixi Wu, Pengyu Chen, Yunzhi Yang, Pentao Liu, Chak Sing Lau, Matthew Cook, Philip Hei Li   +10 more
wiley   +1 more source

Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.

, 2005
Breastfeeding has been recommended for the dietary treatment of infants with phenylketonuria, but studies documenting clinical experience in other inborn errors of metabolism are very few. Seven infants diagnosed with methylmalonyl-CoA mutase deficiency (
Demirkol, J, Baykal, T, Demir, F, Huner, Gülden Fatma   +3 more
core   +1 more source

Fecal Amino Acid Profiles Exceed Accuracy of Serum Amino Acids in Diagnosing Pediatric Inflammatory Bowel Disease

, 2020
In this prospective intention-to-diagnose pilot study, we aimed to assess accuracy of serum and fecal amino-acids to discriminate de novo pediatric inflammatory bowel disease (IBD) and non-IBD children. Patients with suspected IBD were allocated the IBD (
Jansen, Erwin E W, Struys, Eduard A, Benninga, Marc A, de Boer, Nanne K H, de Meij, Tim G J, Brizzio Brentar, Marina, Ayada, Ibrahim, El Manouni El Hassani, Sofia, Bosch, Sofie, Bakkali, Abdellatif   +9 more
core   +1 more source

GC-MS METHODS FOR AMINO ACIDS DETERMINATION IN DIFFERENT BIOLOGICAL EXTRACTS

Studia Universitatis Babes-Bolyai Chemia, 2016
Sensitive, precise and accurate analytical methods for free amino acids determination in biological samples were developed. Purification by ion exchange technique was followed by two steps derivatization method to obtain trifluoroacetyl ester ...
Monica CULEA, Andreea Maria IORDACHE, Elena HORJ, Cornelia MESAROȘ, Ramona BLEIZIFFER   +4 more
doaj  

The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends

Asian Journal of Medical Sciences, 2018
Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
doaj   +1 more source