Results 141 to 150 of about 251,874 (305)

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

Lower diastolic velocity in the internal carotid artery mediates lower cerebral blood flow with age. [PDF]

open access: yesJ Appl Physiol (1985)
Ashley J   +4 more
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3‐WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force

open access: yesEpilepsia Open, EarlyView., 2022
Abstract Epilepsy syndromes during the early years of life may be attributed to an acquired insult, such as hypoxic–ischemic injury, infection, status epilepticus, or brain trauma. These conditions are frequently modeled in experimental rodents to delineate mechanisms of epileptogenesis and investigate novel therapeutic strategies.
Anna‐Maria Katsarou   +7 more
wiley   +1 more source

Cardiorespiratory fitness modifies the relationship between arterial stiffness and cerebral blood flow independent of physical activity. [PDF]

open access: yesAlzheimers Dement (N Y)
Breidenbach BM   +18 more
europepmc   +1 more source

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