41 research outputs found
Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series
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Primary malignant lung tumors in children: A report from the Australian Childhood Cancer Registry, 1983‐2015
No full textBronchial carcinoid tumour identified as the cause for recurrent pneumonia in a 10‐year‐old boy
No full textPediatric airway tumors: A report from the International Network of Pediatric Airway Teams (INPAT)
No full textSelf-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to two novel mutations in the ALOX12B gene.
No full textPulmonary inflammatory Myofibroblastic tumor indistinguishable from tuberculosis: a case report in a five-year-old child with hemoptysis
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Unusual cardiac outcomes of bacteremia due to Staphylococcus aureus infection: a case report
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Clinical and biochemical characterization of four patients with mutations in ECHS1.
No full textShort-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate specificity and is believed to play an important role in mitochondrial fatty acid oxidation and in th
