Results 191 to 200 of about 2,741,348 (370)
Abstract Sudden deaths in infants and children represent a profound and tragic event that continues to challenge researchers despite extensive investigation over several decades. The predominant phenotype, sudden infant death syndrome (SIDS), has evolved into the broader category of sudden unexpected infant death (SUID).
Suvasini Sharma+3 more
wiley +1 more source
The Laboratory Diagnosis of Selected Inborn Errors of Metabolism [PDF]
J. B. Holton
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The risk of epilepsy after neonatal seizures
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16288 Abstract Aim To estimate the cumulative risk of epilepsy after neonatal seizures and identify subpopulations at increased risk. Method This was a nationwide register‐based cohort study including all children born in Denmark between 1997 and 2018.
Jeanette Tinggaard+6 more
wiley +1 more source
Selective screening for inborn errors of metabolism-past, present and future [PDF]
Gustav Hoffmann
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The fetal neurologist: Strategies to improve training, practice, and clinical care
Abstract Fetal neurology addresses counselling parents on the clinical significance of brain anomalies encountered in their fetus, including disruptive lesions (i.e. stroke, periventricular haemorrhagic infarction, and infection), and genetically based cortical (i.e.
Tally Lerman‐Sagie, Anthony R. Hart
wiley +1 more source
An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum
Emanuel Epstein
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Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. [PDF]
Marie S. Buchmann+6 more
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Abstract Aims Young‐onset type 2 diabetes mellitus (YT2DM) is an aggressive phenotype, with some claiming that diagnosis at <40 years of age represents a distinct higher risk group. Others have suggested restricting YT2DM to those diagnosed at <30 years of age.
Xi May Zhen+14 more
wiley +1 more source
Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?
Shiro Hayashi+4 more
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Inborn errors of metabolism (IEM) revealed by Reye's syndrome (RS) [PDF]
Michaël Fayon
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