Results 151 to 160 of about 26,855 (306)

Neurogenetic and inborn errors of metabolism in pediatrics: A case series highlighting phenotypic diversity and treatable presentations [PDF]

Alok Bhutada, G Yogeshwar, Aniraban Mahanta, Papori Borah, Marami Das, Munindra Goswami   +5 more
openalex   +1 more source

Update on Neuropathies in Inborn Errors of Metabolism [PDF]

, 2021
Renata Pająk, Ewelina Mendela, Natalia Będkowska, Justyna Paprocka   +3 more
openalex   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Elements of genetic counseling for inborn errors of metabolism

, 2019
Natalie Beck, Carolyn Applegate
openalex   +2 more sources

O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience

, 2023
Emily Groopman, Amanda Thomas‐Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann B. Moser, Sharon F. Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek‐Andrews, Nancy Braverman, Rong Mao   +16 more
openalex   +1 more source

Audio‐guided exercise at home: Preliminary findings from a pilot study on physical activity for people with low vision

PM&R, EarlyView.
Abstract Background: Individuals with severe visual impairments frequently refrain from regular physical activity due to multiple barriers, including transportation difficulties, financial constraints, and limited availability of exercise programs tailored to their needs. These factors often contribute to a gradual decline in mobility and independence.
Luca Correale, Monica Schmid, Francesco Decortes, Luca Martinis, Giulia Liberali, Luca Bandirali, Gabriella Cusella, Cristina Montomoli   +7 more
wiley   +1 more source

Clinical and laboratory approach to a neonate suspected of an inborn error of metabolism

, 1999
Ellen S. Kang
openalex   +1 more source

Development and application targeted NGS panels in the selective screening algorithm for inborn errors of metabolism. An experience of the St. Petersburg Medical and Genetic Center

, 2020
Ю. А. Чурюмова, Н. В. Вохмянина, Stefanida Shliaga, Т. В. Вавилова, Tamara Simakova, М. А. Зайцева, A. Pavlov   +6 more
openalex   +2 more sources