Results 1 to 10 of about 66,265 (203)
One novel HSD17B4 mutation in association with D-bifunctional protein deficiency: a case report and literature review [PDF]
Frontiers in PediatricsBackgroundD-Bifunctional protein, also called D-peroxisomal bifunctional enzyme which is encoded by HSD17B4 gene located in chromosome 5q21, catalyzes the second and third steps of preoxisomal β-oxidation of fatty acids and fatty acid derivatives.
Lu Xiong +6 more
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Transient neonatal myasthenia gravis: case report [PDF]
Romanian Medical Journal, 2022 Transient neonatal myasthenia gravis (TNMG) is a distinct type of myasthenia gravis (MG), a temporary autoimmune condition due to the mother’s antibodies crossing over the placenta and affecting the baby. Studies suggest that 10 to 15% of infants born to
Diana Iulia Vasilescu +3 more
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Pediatric Care Online, 2020 Key Points Hypotonia is distinct from weakness, although the two are often confused. It is not itself a diagnosis, and its underlying condition must be identified. It can result from pathological changes anywhere along the neural pathway from the brain to the muscle. Children with hypotonia often benefit from multidisciplinary care.
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The Weak Link: Hypotonia in Infancy and Autism Early Identification
Frontiers in Neurology, 2021 Background: Presenting symptoms and age specific differential diagnosis of Autism Spectrum Disorder (ASD), determine the age of initial assessment and the age of a definite diagnosis.
Lidia V. Gabis +7 more
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Frontiers in Pediatrics, 2021 Background: D-Bifunctional protein deficiency (D-BPD) is an autosomal recessive disorder caused by peroxisomal β-oxidation defects. According to the different activities of 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units, D ...
Si Chen +5 more
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Molecular Genetics & Genomic Medicine, 2021 Background PURA syndrome is rare autosomal dominant condition characterized by moderate to severe neurodevelopmental delay with absence of speech in nearly all patients and lack of independent ambulation in many.
Valeria Cinquina +5 more
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Child's Nervous System, 2020 To provide the insight for postoperative hypotonia. Selective posterior rhizotomy (SPR) has been proved as a powerful tool for reducing spasticity. And also, its functional benefit and long-term effect are also well-known.The most considered side effect of this procedure is postoperative hypotonia.
Eun-Kyung, Park +2 more
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]
, 2020 Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C +28 more
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, 2019 Abstract This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of the multiple disorders causing congenital hypotonia. The differential diagnosis of various types of hypotonic syndromes includes chromosome anomalies, metabolic myopathies, peroxisomal disorders, brain malformations, congenital lower
Robin D. Clark, Cynthia J. Curry
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Frontiers in Neurology, 2022 Background: Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called glycosylphosphatidylinositol-anchored proteins biosynthesis defects.
Justyna Paprocka +8 more
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