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Volumn 23, Issue 3, 2000, Pages 197-214

Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE;

EID: 19244373980     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005675827612     Document Type: Conference Paper
Times cited : (19)

References (69)
  • 1
    • 17344372507 scopus 로고    scopus 로고
    • The gene for glycogen storage disease type Ib maps to chromosome 11q23
    • Annabi R, Hiraiwa H, Mansfield BC, et al (1998) The gene for glycogen storage disease type Ib maps to chromosome 11q23. Am J Hum Genet 62: 400-405.
    • (1998) Am J Hum Genet , vol.62 , pp. 400-405
    • Annabi, R.1    Hiraiwa, H.2    Mansfield, B.C.3
  • 3
    • 0017655656 scopus 로고
    • Measurement of 'true' glucose production rates in infancy and childhood with 6,6-dideuteroglucose
    • Bier DM, Leake RD, Haymond MW, et al (1977) Measurement of 'true' glucose production rates in infancy and childhood with 6,6-dideuteroglucose. Diabetes 26: 1016-1023.
    • (1977) Diabetes , vol.26 , pp. 1016-1023
    • Bier, D.M.1    Leake, R.D.2    Haymond, M.W.3
  • 4
    • 0025694816 scopus 로고
    • The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states
    • Bonnefont JP, Specola NB, Vassault A, et al (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr 150: 80-85.
    • (1990) Eur J Pediatr , vol.150 , pp. 80-85
    • Bonnefont, J.P.1    Specola, N.B.2    Vassault, A.3
  • 5
    • 0032729717 scopus 로고    scopus 로고
    • Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
    • Bonnett D, Martin D, de Lonlay P, et al (1999) Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100: 2248-2253.
    • (1999) Circulation , vol.100 , pp. 2248-2253
    • Bonnett, D.1    Martin, D.2    De Lonlay, P.3
  • 7
    • 0028931461 scopus 로고
    • Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes
    • Brivet M, Slama A, Saudubray JM, Legrand A, Lemonnier A (1995) Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes. Ann Clin Biochem 32: 154-159.
    • (1995) Ann Clin Biochem , vol.32 , pp. 154-159
    • Brivet, M.1    Slama, A.2    Saudubray, J.M.3    Legrand, A.4    Lemonnier, A.5
  • 8
    • 0034118154 scopus 로고    scopus 로고
    • Glucose transporters: Structure function and consequences of deficiency
    • Brown GK (2000) Glucose transporters: structure function and consequences of deficiency. J Inherit Metab Dis 23: 237-246.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 237-246
    • Brown, G.K.1
  • 9
    • 0024495419 scopus 로고
    • Pancreatic venous samplings in infants and children with primary hyperinsulinism
    • Brunelle F, Negre V, Barth MO, et al (1989) Pancreatic venous samplings in infants and children with primary hyperinsulinism. Pediatr Radiol 19: 100-103.
    • (1989) Pediatr Radiol , vol.19 , pp. 100-103
    • Brunelle, F.1    Negre, V.2    Barth, M.O.3
  • 11
    • 0030880778 scopus 로고    scopus 로고
    • Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy
    • De Lonlay-Debeney P, Fournet JC, Rahier J, et al (1997) Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 100: 802-807.
    • (1997) J Clin Invest , vol.100 , pp. 802-807
    • De Lonlay-Debeney, P.1    Fournet, J.C.2    Rahier, J.3
  • 13
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI (1991) Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 325: 703-709.
    • (1991) N Engl J Med , vol.325 , pp. 703-709
    • De Vivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.I.3    Ronen, G.M.4    Behmand, R.A.5    Harik, S.I.6
  • 14
    • 0029011145 scopus 로고
    • Glucose transport deficiency: An emerging syndrome with therapeutic implications
    • De Vivo DC, Garcia-Alvarez M, Ronen G, Trifiletti R (1995) Glucose transport deficiency: an emerging syndrome with therapeutic implications. Int Pediatrics 10: 51-56.
    • (1995) Int Pediatrics , vol.10 , pp. 51-56
    • De Vivo, D.C.1    Garcia-Alvarez, M.2    Ronen, G.3    Trifiletti, R.4
  • 15
    • 0017172436 scopus 로고
    • Malicious insulin administration resulting in transient hepatomegaly and hypoglycemia
    • Dershewitz R, Vestal B, Maclaren N, Cornblath M (1976) Malicious insulin administration resulting in transient hepatomegaly and hypoglycemia. Am J Dis Child 130: 998-999.
    • (1976) Am J Dis Child , vol.130 , pp. 998-999
    • Dershewitz, R.1    Vestal, B.2    Maclaren, N.3    Cornblath, M.4
  • 16
    • 0029098644 scopus 로고
    • Hyperinsulinism in children: Diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases
    • Dubois J, Brunelle F, Touati G, et al (1995) Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr Radiol 25: 512-516.
    • (1995) Pediatr Radiol , vol.25 , pp. 512-516
    • Dubois, J.1    Brunelle, F.2    Touati, G.3
  • 17
    • 0028414470 scopus 로고
    • The metabolic effects of insulin-like growth factor I with special reference to diabetes
    • Froesch ER, Hussain M (1994) The metabolic effects of insulin-like growth factor I with special reference to diabetes. Acta Paediatr 399 (supplement): 165-170.
    • (1994) Acta Paediatr , vol.399 , Issue.SUPPL. , pp. 165-170
    • Froesch, E.R.1    Hussain, M.2
  • 18
    • 0024260942 scopus 로고
    • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: A review of 18 reported patients
    • Gibson KM, Breuer J, Nyhan WL (1988) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: a review of 18 reported patients. Eur J Pediatr 148: 180-186.
    • (1988) Eur J Pediatr , vol.148 , pp. 180-186
    • Gibson, K.M.1    Breuer, J.2    Nyhan, W.L.3
  • 19
    • 0029681364 scopus 로고    scopus 로고
    • Liver glycogen synthase deficiency: A rarely diagnosed entity
    • Gitzelmann R, Spycher MA, Feil G, et al (1996) Liver glycogen synthase deficiency: a rarely diagnosed entity. Eur J Pediatr 155: 561-567.
    • (1996) Eur J Pediatr , vol.155 , pp. 561-567
    • Gitzelmann, R.1    Spycher, M.A.2    Feil, G.3
  • 20
    • 0032556969 scopus 로고    scopus 로고
    • Familial hyperinsulinism caused by an activating glucokinase mutation
    • Glaser B, Kesavan P, Heyman M, et al (1998) Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 338: 226-230.
    • (1998) N Engl J Med , vol.338 , pp. 226-230
    • Glaser, B.1    Kesavan, P.2    Heyman, M.3
  • 21
    • 0024339361 scopus 로고
    • Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia
    • Goossens A, Gepts W, Saudubray JM, et al (1989) Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Pathol 13: 766-775.
    • (1989) Am J Surg Pathol , vol.13 , pp. 766-775
    • Goossens, A.1    Gepts, W.2    Saudubray, J.M.3
  • 22
    • 0017066379 scopus 로고
    • Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria
    • Gregersen N, Lauritzen R, Rasmussen K (1976) Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria. Clin Chim Acta 70: 417-425.
    • (1976) Clin Chim Acta , vol.70 , pp. 417-425
    • Gregersen, N.1    Lauritzen, R.2    Rasmussen, K.3
  • 23
    • 0014985404 scopus 로고
    • Metabolic rate and organ size during growth from infancy to maturity and during late gestation and early infancy
    • Halliday MA (1971) Metabolic rate and organ size during growth from infancy to maturity and during late gestation and early infancy. Pediatrics 47: 169-179.
    • (1971) Pediatrics , vol.47 , pp. 169-179
    • Halliday, M.A.1
  • 24
    • 0031831966 scopus 로고    scopus 로고
    • Exploration of glucose homeostasis during fasting in growth-hormone-deficient children
    • Jaquet D, Touati G, Rigal O, Czernichow P (1998) Exploration of glucose homeostasis during fasting in growth-hormone-deficient children. Acta Paediatr 87: 505-510.
    • (1998) Acta Paediatr , vol.87 , pp. 505-510
    • Jaquet, D.1    Touati, G.2    Rigal, O.3    Czernichow, P.4
  • 25
    • 0029658788 scopus 로고    scopus 로고
    • + ATP channels in persistent hyperinsulinemic hypoglycaemia of infancy
    • + ATP channels in persistent hyperinsulinemic hypoglycaemia of infancy. Nature Medicine 2: 1344-1347.
    • (1996) Nature Medicine , vol.2 , pp. 1344-1347
    • Kane, C.1    Shepherd, R.M.2    Squires, P.E.3
  • 26
    • 0030936044 scopus 로고    scopus 로고
    • An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus
    • Kukuvitis A, Deal C, Arbour L, Polychronakos C (1997) An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. J Clin Endocrinol Metab 82: 1192-1194.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1192-1194
    • Kukuvitis, A.1    Deal, C.2    Arbour, L.3    Polychronakos, C.4
  • 27
    • 0025651165 scopus 로고
    • Diabetes mellitus 14 years after subtotal pancreatectomy for neonatal hyperinsulinism
    • Labrune P, Lechevallier S, Rault M, Odièvre M (1990) Diabetes mellitus 14 years after subtotal pancreatectomy for neonatal hyperinsulinism. J Pediatr Surg 25: 1246-1247.
    • (1990) J Pediatr Surg , vol.25 , pp. 1246-1247
    • Labrune, P.1    Lechevallier, S.2    Rault, M.3    Odièvre, M.4
  • 28
    • 0030043266 scopus 로고    scopus 로고
    • Short stature due to genetic defects affecting growth hormone activity
    • Laron Z (1996) Short stature due to genetic defects affecting growth hormone activity. N Engl J Med 334: 463-465.
    • (1996) N Engl J Med , vol.334 , pp. 463-465
    • Laron, Z.1
  • 29
    • 0031921203 scopus 로고    scopus 로고
    • Hypoglycemia due to hormone deficiencies
    • Laron Z (1998) Hypoglycemia due to hormone deficiencies. J Pediatr Endocrinol Metab 11(suppl 1): 117-120.
    • (1998) J Pediatr Endocrinol Metab , vol.11 , Issue.1 SUPPL. , pp. 117-120
    • Laron, Z.1
  • 30
    • 0027439736 scopus 로고
    • Classification of growth hormone insensitivity syndrome
    • Laron Z, Blum W, Chatelain P, et al (1993) Classification of growth hormone insensitivity syndrome. J Pediatr 122: 141.
    • (1993) J Pediatr , vol.122 , pp. 141
    • Laron, Z.1    Blum, W.2    Chatelain, P.3
  • 31
    • 0342588894 scopus 로고
    • Carbohydrate metabolism in primary GH resistance (Laron syndrome) before and during IGF-1 treatment
    • Laron Z, Avitzur Y, Klinger B (1995) Carbohydrate metabolism in primary GH resistance (Laron syndrome) before and during IGF-1 treatment. Metabolism 44 (supplement 4): 486-490.
    • (1995) Metabolism , vol.44 , Issue.4 SUPPL. , pp. 486-490
    • Laron, Z.1    Avitzur, Y.2    Klinger, B.3
  • 32
    • 0027381941 scopus 로고
    • Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type Ia
    • Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type Ia. Science 262: 580-583.
    • (1993) Science , vol.262 , pp. 580-583
    • Lei, K.J.1    Shelly, L.L.2    Pan, C.J.3    Sidbury, J.B.4    Chou, J.Y.5
  • 33
    • 0028813928 scopus 로고
    • Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: High incidence of diabetes mellitus and persistent B-cell dysfunction at long-term follow-up
    • Leibowitz G, Glaser B, Higazi AA, Salameh M, Cerasi E, Landau H (1995) Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: high incidence of diabetes mellitus and persistent B-cell dysfunction at long-term follow-up. J Clin Endocrinol Metab 80: 386-392.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 386-392
    • Leibowitz, G.1    Glaser, B.2    Higazi, A.A.3    Salameh, M.4    Cerasi, E.5    Landau, H.6
  • 34
    • 0023153969 scopus 로고
    • Acetoacetyl-CoA thiolase deficiency presenting as ketotic hypoglycemia
    • Leonard JV, Middleton B, Seakins JW (1987) Acetoacetyl-CoA thiolase deficiency presenting as ketotic hypoglycemia. Pediatr Res 21: 211-213.
    • (1987) Pediatr Res , vol.21 , pp. 211-213
    • Leonard, J.V.1    Middleton, B.2    Seakins, J.W.3
  • 35
    • 9344222798 scopus 로고    scopus 로고
    • Ionic control of β-cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade
    • Lindley KJ, Dunne MJ, Kane C, et al (1996) Ionic control of β-cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade. Arch Dis Child 74: 373-378.
    • (1996) Arch Dis Child , vol.74 , pp. 373-378
    • Lindley, K.J.1    Dunne, M.J.2    Kane, C.3
  • 36
    • 0016652419 scopus 로고
    • Congenital hypopituitarism associated with neonatal hypoglycemia and microphallus: Four cases secondary to hypothalamic hormone deficiencies
    • Lovinger RD, Kaplan SL, Grumbach MM (1975) Congenital hypopituitarism associated with neonatal hypoglycemia and microphallus: four cases secondary to hypothalamic hormone deficiencies. J Pediatr 87: 1171-1181.
    • (1975) J Pediatr , vol.87 , pp. 1171-1181
    • Lovinger, R.D.1    Kaplan, S.L.2    Grumbach, M.M.3
  • 40
    • 0028950214 scopus 로고
    • Evidence for intermediate channeling of mitochondrial β-oxidation
    • Nada M, Rhead W, Sprecher H, Schulz H, Roe CR (1995) Evidence for intermediate channeling of mitochondrial β-oxidation. J Biol Chem 270: 530-535.
    • (1995) J Biol Chem , vol.270 , pp. 530-535
    • Nada, M.1    Rhead, W.2    Sprecher, H.3    Schulz, H.4    Roe, C.R.5
  • 41
    • 0029658241 scopus 로고    scopus 로고
    • Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
    • Nestorowicz A, Wilson BA, Schoor KP, et al (1996) Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet 5: 1813-1822.
    • (1996) Hum Mol Genet , vol.5 , pp. 1813-1822
    • Nestorowicz, A.1    Wilson, B.A.2    Schoor, K.P.3
  • 42
    • 15644367096 scopus 로고    scopus 로고
    • A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism
    • Nestorowicz A, Inagaki N, Gonoit T, et al (1997) A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 46: 1743-1748.
    • (1997) Diabetes , vol.46 , pp. 1743-1748
    • Nestorowicz, A.1    Inagaki, N.2    Gonoit, T.3
  • 43
    • 0030784488 scopus 로고    scopus 로고
    • Succinyl-CoA:acetoacetate transferase deficiency: Identification of a new patient with a neonatal onset and review of the literature
    • Niezen-Koning KE, Wanders RJ, Ruiter JP, et al (1997) Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature. Eur J Pediatr 156: 870-873.
    • (1997) Eur J Pediatr , vol.156 , pp. 870-873
    • Niezen-Koning, K.E.1    Wanders, R.J.2    Ruiter, J.P.3
  • 45
    • 0021320297 scopus 로고
    • The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: Deficiency of pancreatic D cells or hyperactivity of B cells?
    • Rahier J, Fälts K, Münterfering H, Becker K, Gepts W, Falkmer S (1984) The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells? Diabetologia 26: 282-289.
    • (1984) Diabetologia , vol.26 , pp. 282-289
    • Rahier, J.1    Fälts, K.2    Münterfering, H.3    Becker, K.4    Gepts, W.5    Falkmer, S.6
  • 46
    • 0031936418 scopus 로고    scopus 로고
    • Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: The pathologist's role
    • Rahier J, Sempoux C, Fournet JC, et al (1998) Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology 32: 15-19.
    • (1998) Histopathology , vol.32 , pp. 15-19
    • Rahier, J.1    Sempoux, C.2    Fournet, J.C.3
  • 47
    • 0025177610 scopus 로고
    • Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: An overview
    • Tanaka K, Coates PM, eds. New-York: Alan R. Liss
    • Rhead WJ (1990) Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: an overview. In Tanaka K, Coates PM, eds. Fatty Acid Oxidation: Clinical Biochemical and Molecular Aspects. New-York: Alan R. Liss, 365-382.
    • (1990) Fatty Acid Oxidation: Clinical Biochemical and Molecular Aspects , pp. 365-382
    • Rhead, W.J.1
  • 49
    • 0030667885 scopus 로고    scopus 로고
    • Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi Bickel syndrome
    • Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J (1997) Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi Bickel syndrome. Nature Genetics 17: 324-326.
    • (1997) Nature Genetics , vol.17 , pp. 324-326
    • Santer, R.1    Schneppenheim, R.2    Dombrowski, A.3    Götze, H.4    Steinmann, B.5    Schaub, J.6
  • 50
    • 0031705401 scopus 로고    scopus 로고
    • Fanconi-Bickel syndrome - The original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
    • Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (1998) Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr 157: 783-797.
    • (1998) Eur J Pediatr , vol.157 , pp. 783-797
    • Santer, R.1    Schneppenheim, R.2    Suter, D.3    Schaub, J.4    Steinmann, B.5
  • 51
    • 0019992258 scopus 로고
    • Oxidation of fatty acids in cultured fibroblasts: A model system for the detection and study of defects in oxidation
    • Saudubray JM, Coudé FX, Demaugre F, Johnson C, Gibson KM, Nyhan WC (1982) Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res 16: 877-881.
    • (1982) Pediatr Res , vol.16 , pp. 877-881
    • Saudubray, J.M.1    Coudé, F.X.2    Demaugre, F.3    Johnson, C.4    Gibson, K.M.5    Nyhan, W.C.6
  • 52
    • 0023472290 scopus 로고
    • Hyperketotic states due to inherited defects of ketolysis
    • Saudubray JM, Specola N, Middleton B, et al (1987) Hyperketotic states due to inherited defects of ketolysis. Enzyme 38: 80-90.
    • (1987) Enzyme , vol.38 , pp. 80-90
    • Saudubray, J.M.1    Specola, N.2    Middleton, B.3
  • 53
    • 0033004986 scopus 로고    scopus 로고
    • Recognition and management of fatty acid oxidation defects: A series of 107 patients
    • Saudubray JM, Martin D, De Lonlay P, et al (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 22: 488-502.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 488-502
    • Saudubray, J.M.1    Martin, D.2    De Lonlay, P.3
  • 54
    • 17344367164 scopus 로고    scopus 로고
    • GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
    • Seidner G, Garcia Alvarez M, Yeh JI, et al (1998) GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nature Genetics 18: 188-191.
    • (1998) Nature Genetics , vol.18 , pp. 188-191
    • Seidner, G.1    Garcia Alvarez, M.2    Yeh, J.I.3
  • 55
    • 0031782335 scopus 로고    scopus 로고
    • Neonatal hyperinsulinemic hypoglycemia: Heterogeneity of the syndrome and keys for differential diagnosis
    • Sempoux C, Guiot Y, Lefevre A, et al (1998) Neonatal hyperinsulinemic hypoglycemia: heterogeneity of the syndrome and keys for differential diagnosis. J Clin Endocrinol Metab 83: 1455-1461.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 1455-1461
    • Sempoux, C.1    Guiot, Y.2    Lefevre, A.3
  • 56
    • 0031045497 scopus 로고    scopus 로고
    • Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate?
    • Shilyanski J, Fisher S, Cutz E, Perlman K, Filler RM (1997) Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate? J Pediatr Surg 32: 342-346.
    • (1997) J Pediatr Surg , vol.32 , pp. 342-346
    • Shilyanski, J.1    Fisher, S.2    Cutz, E.3    Perlman, K.4    Filler, R.M.5
  • 57
    • 0032493123 scopus 로고    scopus 로고
    • Hyperinsulinemia and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
    • Stanley CA, Lieu YK, Hsu BY, et al (1998) Hyperinsulinemia and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 338: 1352-1357.
    • (1998) N Engl J Med , vol.338 , pp. 1352-1357
    • Stanley, C.A.1    Lieu, Y.K.2    Hsu, B.Y.3
  • 58
    • 0024373006 scopus 로고
    • Acute metabolic encephalopathy: A review of causes, mechanisms and treatment
    • Surtees R, Leonard JV (1989) Acute metabolic encephalopathy: a review of causes, mechanisms and treatment. J Inherit Metab Dis 12: 42-54.
    • (1989) J Inherit Metab Dis , vol.12 , pp. 42-54
    • Surtees, R.1    Leonard, J.V.2
  • 59
    • 0029836983 scopus 로고    scopus 로고
    • Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
    • Thomas P, Ye Y, Lightner E (1996) Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 5: 1809-1812.
    • (1996) Hum Mol Genet , vol.5 , pp. 1809-1812
    • Thomas, P.1    Ye, Y.2    Lightner, E.3
  • 60
    • 0029021696 scopus 로고
    • Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
    • Thomas PM, Cote GJ, Wohllk N, et al (1995) Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268: 426-429.
    • (1995) Science , vol.268 , pp. 426-429
    • Thomas, P.M.1    Cote, G.J.2    Wohllk, N.3
  • 61
    • 0031584530 scopus 로고    scopus 로고
    • Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase
    • Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA (1997) Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N Engl J Med 337: 1203-1207.
    • (1997) N Engl J Med , vol.337 , pp. 1203-1207
    • Thompson, G.N.1    Hsu, B.Y.2    Pitt, J.J.3    Treacy, E.4    Stanley, C.A.5
  • 62
    • 0026053121 scopus 로고
    • Familial and sporadic hyperinsulinism: Histopathologic findings and segregation analysis support a single autosomal recessive disorder
    • Thornton PS, Sumner AE, Ruchelli ED, Spielman RS, Baker L, Stanley CA (1991) Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. J Pediatr 119: 721-724.
    • (1991) J Pediatr , vol.119 , pp. 721-724
    • Thornton, P.S.1    Sumner, A.E.2    Ruchelli, E.D.3    Spielman, R.S.4    Baker, L.5    Stanley, C.A.6
  • 63
    • 0025768055 scopus 로고
    • Role of the liver in metabolic homoeostasis: Implications for inborn errors of metabolism
    • Van de Berghe G (1991) Role of the liver in metabolic homoeostasis: implications for inborn errors of metabolism. J Inher Metab Dis 14: 407-435.
    • (1991) J Inher Metab Dis , vol.14 , pp. 407-435
    • Van De Berghe, G.1
  • 64
    • 0032190017 scopus 로고    scopus 로고
    • Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
    • Verkarre V, Fournet JC, de Lonlay P, et al (1998) Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 102: 1286-1291.
    • (1998) J Clin Invest , vol.102 , pp. 1286-1291
    • Verkarre, V.1    Fournet, J.C.2    De Lonlay, P.3
  • 65
    • 0023184852 scopus 로고
    • The inborn errors of mitochondrial fatty acid oxidation
    • Vianey-Saban C, Divry P, Gregersen N, Mathieu M (1987) The inborn errors of mitochondrial fatty acid oxidation. J Inherit Metab Dis 10 (supplement 1): 159-198.
    • (1987) J Inherit Metab Dis , vol.10 , Issue.1 SUPPL. , pp. 159-198
    • Vianey-Saban, C.1    Divry, P.2    Gregersen, N.3    Mathieu, M.4
  • 66
    • 0017760283 scopus 로고
    • Glucagon deficiency causing severe neonatal hypoglycemia in a patient with a normal insulin secretion
    • Vidnes J. Oyasaeter S (1977) Glucagon deficiency causing severe neonatal hypoglycemia in a patient with a normal insulin secretion. Pediatr Res 11: 943-949.
    • (1977) Pediatr Res , vol.11 , pp. 943-949
    • Vidnes, J.1    Oyasaeter, S.2
  • 67
    • 0002199038 scopus 로고
    • Hypoglycemia and brain injury
    • Volpe JJ, ed. Philadelphia: Saunders
    • Volpe JJ (1995) Hypoglycemia and brain injury. In Volpe JJ, ed. Neurology of the Newborn. Philadelphia: Saunders, 467-489.
    • (1995) Neurology of the Newborn , pp. 467-489
    • Volpe, J.J.1
  • 68
    • 0006105709 scopus 로고
    • Hypoglycaemia and hyperammonaemia
    • Clayton BE, Round JM, eds. London: Blackwell Scientific
    • Walker V (1994) Hypoglycaemia and hyperammonaemia. In Clayton BE, Round JM, eds. Clinical Biochemistry and the Sick Child. London: Blackwell Scientific, 87-120.
    • (1994) Clinical Biochemistry and the Sick Child , pp. 87-120
    • Walker, V.1
  • 69
    • 0029808377 scopus 로고    scopus 로고
    • Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia
    • Zammarchi E, Filippi L, Novembre E, Donati MA (1996) Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism 45: 957-960.
    • (1996) Metabolism , vol.45 , pp. 957-960
    • Zammarchi, E.1    Filippi, L.2    Novembre, E.3    Donati, M.A.4


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