-
1
-
-
17344372507
-
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
-
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
-
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
-
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
-
6
-
-
0019499706
-
Fasting hypolycemia resulting from hepatic carnitine palmitoyl transferase deficiency
-
Bougnères PF, Saudubray JM, Marsac C, Bernard O, Odièvre M, Girard J (1981) Fasting hypolycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr 98: 742-746.
-
(1981)
J Pediatr
, vol.98
, pp. 742-746
-
-
Bougnères, P.F.1
Saudubray, J.M.2
Marsac, C.3
Bernard, O.4
Odièvre, M.5
Girard, J.6
-
7
-
-
0028931461
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
+ 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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
37
-
-
0024445345
-
Localization of focal lesion permitting partial pancreatectomy in infants
-
Lyonnet S, Bonnefont JP, Saudubray JM, Nihoul-Fékété C, Brunelle F (1989) Localization of focal lesion permitting partial pancreatectomy in infants. Lancet 2: 671.
-
(1989)
Lancet
, vol.2
, pp. 671
-
-
Lyonnet, S.1
Bonnefont, J.P.2
Saudubray, J.M.3
Nihoul-Fékété, C.4
Brunelle, F.5
-
38
-
-
0026621735
-
The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders
-
Coates PM, Tanaka K, eds. New-York: Wiley-Liss
-
Millington DS, Terada N, Chace DH, et al (1992) The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. In Coates PM, Tanaka K, eds. New Developments in Fatty Acid Oxidation. Progress in Clinical and Biological Research. New-York: Wiley-Liss, 339-354.
-
(1992)
New Developments in Fatty Acid Oxidation. Progress in Clinical and Biological Research
, pp. 339-354
-
-
Millington, D.S.1
Terada, N.2
Chace, D.H.3
-
39
-
-
0031843579
-
Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
Morris AAM, Lascelles CV, Olpin SE, Lake BD, Leonard JV, Quant PA (1998) Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. Pediatr Res 44: 392-396.
-
(1998)
Pediatr Res
, vol.44
, pp. 392-396
-
-
Morris, A.A.M.1
Lascelles, C.V.2
Olpin, S.E.3
Lake, B.D.4
Leonard, J.V.5
Quant, P.A.6
-
40
-
-
0028950214
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
48
-
-
0002298143
-
Gluconeogenesis and its disorders in man
-
Hanson RW, Mehlman MA, eds. New-York: Wiley
-
Ruderman NB, Aoki TT, Cahill GF (1976) Gluconeogenesis and its disorders in man. In Hanson RW, Mehlman MA, eds. Gluconeogenesis, Its Regulation in Mammalian Species. New-York: Wiley, 515-532.
-
(1976)
Gluconeogenesis, Its Regulation in Mammalian Species
, pp. 515-532
-
-
Ruderman, N.B.1
Aoki, T.T.2
Cahill, G.F.3
-
49
-
-
0030667885
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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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