Participant 1, a 23-year-old woman with congenital hypoglycemia (hyperinsulinism); participant 2, a 16-year-old boy with genetic mutation of the cerebral glucose transporter type 1 (GLUT1 deficient); and participant 3, the 23-year-old healthy twin sister of participant 1 as a control, received a neurologic examination, PET scan, and neuropsychological evaluation, in a study at Neurological Institute, New York, NY
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained ...
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glyc...
BACKGROUND: Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early...
Two siblings were referred for workup for progres-sive neurological deterioration. The elder sibling...
Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory de...
Argininemia or hyperargininemia is a urea cycle disorder caused by deficiency of the enzyme arginase...
We report 3 siblings (1 male and 2 female) recently diagnosed with congenital disorder of glycosylat...
Objective: Familial hyperinsulinism is the most common cause of hypoglycemia in infancy (HI), leasin...
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in early infancy. Mut...
BACKGROUND: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common type of congen...
Nesidioblastosis is a rare metabolic disease characterised by inappropriate insulin secretion often ...
Context: The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominan...
The authors report the cases of two patients with neonatal onset of hypoketotic hypoglycemia with hy...
Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disorder, characteriz...
OBJECTIVE: Neonatal screening for congenital hypothyroidism (CH) prevents the serious neuropsycholog...
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained ...
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glyc...
BACKGROUND: Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early...
Two siblings were referred for workup for progres-sive neurological deterioration. The elder sibling...
Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory de...
Argininemia or hyperargininemia is a urea cycle disorder caused by deficiency of the enzyme arginase...
We report 3 siblings (1 male and 2 female) recently diagnosed with congenital disorder of glycosylat...
Objective: Familial hyperinsulinism is the most common cause of hypoglycemia in infancy (HI), leasin...
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in early infancy. Mut...
BACKGROUND: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common type of congen...
Nesidioblastosis is a rare metabolic disease characterised by inappropriate insulin secretion often ...
Context: The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominan...
The authors report the cases of two patients with neonatal onset of hypoketotic hypoglycemia with hy...
Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disorder, characteriz...
OBJECTIVE: Neonatal screening for congenital hypothyroidism (CH) prevents the serious neuropsycholog...
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained ...
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glyc...
BACKGROUND: Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early...