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Clinical features of 52 neonates with hyperinsulinism.
BACKGROUND Neonatal hyperinsulinemic hypoglycemia is often resistant to medical therapy and is often treated with near-total pancreatectomy. However, the pancreatic lesions may be focal and treatableExpand
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Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.
OBJECTIVE To evaluate the neurologic outcomes of neonates and infants suffering from persistent hyperinsulinemic hypoglycemia of infancy (PHHI). METHODS The neurologic development of 90 PHHIExpand
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Mutations of the RET proto-oncogene in Hirschsprung's disease
HIRSCHSPRUNG'S disease (HSCR)1 is a common condition (1 in 5,000 live births) resulting in intestinal obstruction in neonates2 and megacolon in infants and adults3. This disease has been ascribed toExpand
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Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases
Abstract. Hyperinsulinism is a heterogeneous disorder characterised by severe hypoglycaemia due to an inappropriate oversecretion of insulin. In a personal series of 175 patients investigated forExpand
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Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype–phenotype correlation
Currarino syndrome (CS) is a rare congenital malformation described in 1981 as the association of three main features: typical sacral malformation (sickle‐shaped sacrum or total sacral agenesis belowExpand
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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Hirschsprung disease (HSCR) is a common congenital malformation (1 in 5,000 live births) due to the absence of autonomic ganglia in the terminal hindgut, and resulting in intestinal obstruction inExpand
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Emergency management and conservative surgery of ovarian torsion in children: a report of 40 cases.
INTRODUCTION The authors describe and discuss the clinical and therapeutic features of 40 ovarian torsions (OT) in children with its urgent treatment that has advanced in recent years. MATERIALSExpand
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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
Congenital hyperinsulinism, or persistent hyperinsulinemic hypoglycemia of infancy (PHHI), is a glucose metabolism disorder characterized by unregulated secretion of insulin and profoundExpand
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Inflammatory myofibroblastic tumor in children: clinical review with anaplastic lymphoma kinase, Epstein-Barr virus, and human herpesvirus 8 detection analysis.
BACKGROUND/PURPOSE Inflammatory myofibroblastic tumor (IMT) is considered as an intermediate neoplasm that may present malignant features. Differential diagnosis with other tumor processes isExpand
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Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR,Expand
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