Results 61 to 70 of about 1,718,768 (214)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Angelman syndrome and isovaleric acidemia: What is the link?

Molecular Genetics and Metabolism Reports, 2015
We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff   +9 more
doaj   +1 more source

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era

, 2019
The laboratory diagnosis of inborn errors of metabolism has been revolutionized in recent years, thanks to the amazing developments in the field of DNA sequencing including whole exome and whole genome sequencing (WES and WGS).
Waterham, Hans R., Wanders, Ronald J. A., Kemp, Stephan, van Kuilenburg, André B. P., Houtkooper, Riekelt H., Vaz, Frederic M., van Karnebeek, Clara D., Ferdinandusse, Sacha   +7 more
core   +1 more source

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening

, 2023
<p>Objective: Pathologic results in expanded metabolic screening tests may be due to the medications, inappropriate sampling methods, or the maternal originated inborn errors of metabolism.
Oguzhan Tin, Tanyel Zubarioglu, Tin, Oguzhan, Cansever, Mehmet Serif, Cigdem Aktuglu-Zeybek, Zuebarioglu, Tanyel, Aktuglu-Zeybek, Cigdem, Mehmet Serif Cansever, Ertugrul Kiykim, Kiykim, Ertugrul   +9 more
core   +1 more source

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source

When meta‐analyses mislead: Promises and pitfalls in teratology counselling

British Journal of Clinical Pharmacology, EarlyView.
Meta‐analysis has become a central tool for evidence synthesis in clinical teratology, offering the promise of increased statistical power, earlier signal detection and consolidated guidance for teratology counselling. When conducted rigorously and interpreted carefully, pooled analyses can provide clinicians with a structured basis for risk ...
Yusuf Cem Kaplan, Nusret Uysal
wiley   +1 more source

Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes

Neurobiology of Disease, 2010
AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant, Elidie Béard, Céline Torrent, Hugues Henry   +3 more
doaj   +1 more source

A Novel Potential Pathway Linking Cardiac Diseases and Cognitive Dysfunction: Impaired Brain Glymphatic Function

Brain Health, EarlyView.
ABSTRACT Growing evidence confirms that cardiac diseases and cognitive dysfunction are closely related. Multiple cardiac diseases have been identified as important risk factors for cognitive impairment and dementia. Notably, recent studies suggest that cardiac diseases are associated not only with vascular cognitive impairment but also with an ...
Jiahuan Guo, Yuliang Qin, Xingquan Zhao
wiley   +1 more source

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease

Pharmaceutics
Background/Objectives: Tay–Sachs disease (TSD) is a neurodegenerative disorder caused by a deficiency in β-hexosaminidase A (HexA), which accumulates GM2 gangliosides, primarily in neurons.
Jacky M. Guerrero-Vargas, Diego A. Suarez-Garcia, Andrés F. Leal, Ivonne L. Diaz-Ariza, León D. Pérez-Pérez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz   +6 more
doaj   +1 more source

Reverse Phase-High Performance Liquid Chromatography: An Alternative to Expensive Tandem Mass Spectrometry Screening for Amino Acid Profiling in Dried Blood Spot in Resource Constrained Diagnostic Settings [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Background: Altered patterns of amino acid profiles are observed in various pathological conditions including nutrition related disorders, cancer, diabetes, urea cycle defects, mitochondrial respiratory chain disorders, and aminoacidopathies.
Prajna P Shetty , Ysphaneendramallimoggala , Brijesh Naik , Leslie Lewis , Nalini K , Pragna Rao   +5 more
doaj