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Clinical features of 52 neonates with hyperinsulinism.
- P. de Lonlay-Debeney, F. Poggi-Travert, +9 authors J. Saudubray
- The New England journal of medicine
- 15 April 1999
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 treatable… Expand
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 PHHI… Expand
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 to… Expand
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 for… Expand
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 below… Expand
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 in… Expand
Emergency management and conservative surgery of ovarian torsion in children: a report of 40 cases.
- V. Rousseau, R. Massicot, +4 authors C. Nihoul-Fékété
- Journal of pediatric and adolescent gynecology
- 1 August 2008
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. MATERIALS… Expand
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
- V. Verkarre, J. Fournet, +8 authors C. Junien
- Biology, Medicine
- The Journal of clinical investigation
- 1 October 1998
Congenital hyperinsulinism, or persistent hyperinsulinemic hypoglycemia of infancy (PHHI), is a glucose metabolism disorder characterized by unregulated secretion of insulin and profound… Expand
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 is… Expand
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