Results 211 to 220 of about 280,648 (303)

Thermometric Based‐Microswimmers with Chemical and Optical Engines

open access: yesAdvanced Intelligent Systems, EarlyView.
Temperature sensing at small scales is typically performed using passive luminescent particles. Here, an alternative approach is demonstrated by integrating upconversion thermometry into self‐propelled microswimmers powered by chemical fuels or light. This strategy offers a step toward dynamic thermal sensing at the microscale, relevant to both lab‐on ...
João M. Gonçalves, Katherine Villa
wiley   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro   +10 more
wiley   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams   +8 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

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