[HTML][HTML] Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in
mitochondrial fatty acid β-oxidation. Fatty acid β-oxidation fuels hepatic ketogenesis, which …
mitochondrial fatty acid β-oxidation. Fatty acid β-oxidation fuels hepatic ketogenesis, which …
Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a sco** review
People from refugee and migrant backgrounds often face poor experiences and outcomes in
healthcare, and genetic healthcare is no exception. Understanding whether and how these …
healthcare, and genetic healthcare is no exception. Understanding whether and how these …
Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting
J Wynn, J Hoskovec, RD Carter, MJ Ross… - Prenatal …, 2023 - Wiley Online Library
Objective Carrier screening with reflex to single‐gene noninvasive prenatal testing (sgNIPT)
is an alternative approach for identifying pregnancies at risk for inherited autosomal …
is an alternative approach for identifying pregnancies at risk for inherited autosomal …
Bridging the Gap: Animal Models in Next-Generation Reproductive Technologies for Male Fertility Preservation
This review aims to explore advanced reproductive technologies for male fertility
preservation, underscoring the essential role that animal models have played in sha** …
preservation, underscoring the essential role that animal models have played in sha** …
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
Succinic semialdehyde dehydrogenase deficiency (SSADHD)(OMIM# 271980) is a rare
autosomal recessive metabolic disorder caused by pathogenic variants of ALDH5A1 …
autosomal recessive metabolic disorder caused by pathogenic variants of ALDH5A1 …
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders
Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for
diagnosis, medical management, and access to precision therapies. Because genetic …
diagnosis, medical management, and access to precision therapies. Because genetic …
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD
X Vendrell, A Abulí, C Serra, JJ Guillén… - European Journal of …, 2024 - nature.com
Autosomal recessive or X-linked disorders are passed from parents to offspring through
Mendelian inheritance patterns and may lead to severe clinical manifestations in early …
Mendelian inheritance patterns and may lead to severe clinical manifestations in early …
Embryo and Fetal Gene Editing: Technical Challenges and Progress towards Clinical Applications
Gene modification therapies (GMT) are slowly but steadily making progress towards clinical
application. As the majority of rare diseases have an identified genetic cause, and as rare …
application. As the majority of rare diseases have an identified genetic cause, and as rare …
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States
BACKGROUND: Familial hypercholesterolemia is a treatable genetic condition but remains
underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) …
underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) …
Update to the essential genomic nursing competencies and outcome indicators
Introduction Genomic healthcare applications have relevance to all healthcare professionals
including nursing, and most evidence‐based clinical applications impact the quality and …
including nursing, and most evidence‐based clinical applications impact the quality and …