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A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage.
Children (Basel)
January 2025
Department of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia. Although enzyme replacement therapy with asfotase alfa was approved in 2015, there are few reports about the dental outcomes of this treatment.
View Article and Find Full Text PDFThree cases of hemoglobin M disease in a family lineage: Case report and literature review.
Medicine (Baltimore)
January 2025
Department of Pediatric Hematology, Children's Medical Center, The First Hospital of Jilin University, Changchun, China.
Rationale: This study presents a case of hemoglobin M disease (HMD), a rare inherited disorder characterized by persistent cyanosis and hypoxemia, observed across 3 generations within a single family. The diagnosis of HMD poses significant challenges, particularly in asymptomatic individuals, due to its rarity and the subtlety of its symptoms. Notably, there is a scarcity of reports on methemoglobinemia in pediatric populations, which further complicates early detection and intervention.
View Article and Find Full Text PDFInherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.
Equine Vet J
January 2025
Université de Lyon, VetAgro Sup, Marcy l'Etoile, France.
Background: Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported.
View Article and Find Full Text PDFElectroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings.
Neurol Int
January 2025
Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.
Background/objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant.
View Article and Find Full Text PDF1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case.
Curr Issues Mol Biol
January 2025
Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University "Gabriele d'Annunzio" of Chieti-Pescara, 66100 Chieti, Italy.
Background: Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic or syndromic conditions.
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