-
1
-
-
0034099789
-
Controversies regarding definition of neonatal hypoglycemia: Suggested operational thresholds
-
Cornblath M, Hawdon JM, Williams AF, Aynsley-Green A, Ward-Platt MP, Schwartz R, et al. Controversies regarding definition of neonatal hypoglycemia: Suggested operational thresholds. Pediatrics. 2000;105:1141 -5.
-
(2000)
Pediatrics
, vol.105
, pp. 1141-1145
-
-
Cornblath, M.1
Hawdon, J.M.2
Williams, A.F.3
Aynsley-Green, A.4
Ward-Platt, M.P.5
Schwartz, R.6
-
2
-
-
34347325179
-
Hyperinsulinaemic hypoglycaemia: Biochemical basis and the importance of maintaining normoglycaemia during management
-
DOI 10.1136/adc.2006.115543
-
Hussain K, Blankenstein O, De Lonlay P, Christesen HT. Hyperinsulinaemic hypoglycaemia: Biochemical basis and the importance of maintaining normoglycaemia during management. Arch Dis Child. 2007;92:568-70. (Pubitemid 47012944)
-
(2007)
Archives of Disease in Childhood
, vol.92
, Issue.7
, pp. 568-570
-
-
Hussain, K.1
Blankenstein, O.2
De Lonlay, P.3
Christesen, H.T.4
-
3
-
-
0021200640
-
Hyperinsulinism in asphyxiated and small-for-dates infants with hypoglycaemia
-
Collins JE, Leonard JV. Hyperinsulinism in asphyxiated and small-for-dates infants with hypoglycaemia. Lancet. 1984;2:311-3. (Pubitemid 14054818)
-
(1984)
Lancet
, vol.2
, Issue.8398
, pp. 311-313
-
-
Collins, J.E.1
Leonard, J.V.2
-
4
-
-
0016609877
-
Control of carbohydrate metabolism in the fetus and newborn
-
Shelley HJ, Bassett JM, Milner RD. Control of carbohydrate metabolism in the fetus and newborn. Br Med Bull. 1975; 31:37-43.
-
(1975)
Br Med Bull
, vol.31
, pp. 37-43
-
-
Shelley, H.J.1
Bassett, J.M.2
Milner, R.D.3
-
5
-
-
84879507043
-
Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age
-
doi:10.1136/archdischild-2012-302880
-
Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, et al. Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Arch Dis Child Fetal Neonatal Ed. 2013; doi:10.1136/archdischild-2012-302880.
-
(2013)
Arch Dis Child Fetal Neonatal Ed
-
-
Arya, V.B.1
Flanagan, S.E.2
Kumaran, A.3
Shield, J.P.4
Ellard, S.5
Hussain, K.6
-
6
-
-
0033653702
-
Management of hyperinsulinism in infancy and childhood
-
Hussain K, Aynsley-Green A. Management of hyperinsulinism in infancy and childhood. Ann Med. 2000;32:544-51.
-
(2000)
Ann Med
, vol.32
, pp. 544-551
-
-
Hussain, K.1
Aynsley-Green, A.2
-
7
-
-
0034067782
-
Practical management of hyperinsulinism in infancy
-
Aynsley-Green A, Hussain K, Hall J, Saudubray JM, Nihoul- Fékété C, De Lonlay-Debeney P, et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed. 2000;82:F98-107.
-
(2000)
Arch Dis Child Fetal Neonatal Ed
, vol.82
-
-
Aynsley-Green, A.1
Hussain, K.2
Hall, J.3
Saudubray, J.M.4
Nihoul- Fékété, C.5
De Lonlay-Debeney, P.6
-
8
-
-
66749096831
-
Hyperinsulinaemic hypoglycaemia
-
Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K. Hyperinsulinaemic hypoglycaemia. Arch Dis Child. 2009;94:450-7.
-
(2009)
Arch Dis Child
, vol.94
, pp. 450-457
-
-
Kapoor, R.R.1
Flanagan, S.E.2
James, C.3
Shield, J.4
Ellard, S.5
Hussain, K.6
-
9
-
-
78650582586
-
Congenital hyperinsulinism and neonatal diabetes mellitus
-
Hussain K. Congenital hyperinsulinism and neonatal diabetes mellitus. Rev Endocr Metab Disord. 2010;11:155-6.
-
(2010)
Rev Endocr Metab Disord
, vol.11
, pp. 155-156
-
-
Hussain, K.1
-
10
-
-
84863876012
-
Hyperinsulinaemic hypoglycaemia: Genetic mechanisms, diagnosis and management
-
Senniappan S, Shanti B, James C, Hussain K. Hyperinsulinaemic hypoglycaemia: Genetic mechanisms, diagnosis and management. J Inherit Metab Dis. 2012;35:589-601.
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 589-601
-
-
Senniappan, S.1
Shanti, B.2
James, C.3
Hussain, K.4
-
11
-
-
84867244541
-
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A
-
Stanescu DE, Hughes N, Kaplan B, Stanley CA, De León DD. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab. 2012;97:E2026-30.
-
(2012)
J Clin Endocrinol Metab
, vol.97
-
-
Stanescu, D.E.1
Hughes, N.2
Kaplan, B.3
Stanley, C.A.4
De León, D.D.5
-
12
-
-
48749109863
-
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations
-
Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest. 2008;118:2877-86.
-
(2008)
J Clin Invest
, vol.118
, pp. 2877-2886
-
-
Pinney, S.E.1
MacMullen, C.2
Becker, S.3
Lin, Y.W.4
Hanna, C.5
Thornton, P.6
-
14
-
-
33644782807
-
18F]-DOPA positron emission tomography
-
DOI 10.2337/diabetes.55.1.13
-
Otonkoski T, Näntö-Salonen K, Seppänen M, Veijola R, Huopio H, Hussain K, et al. Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes. 2006;55:13-8. (Pubitemid 43343294)
-
(2006)
Diabetes
, vol.55
, Issue.1
, pp. 13-18
-
-
Otonkoski, T.1
Nanto-Salonen, K.2
Seppanen, M.3
Veijola, R.4
Huopio, H.5
Hussain, K.6
Tapanainen, P.7
Eskola, O.8
Parkkola, R.9
Ekstrom, K.10
Guiot, Y.11
Rahier, J.12
Laakso, M.13
Rintala, R.14
Nuutila, P.15
Minn, H.16
-
15
-
-
0035091975
-
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome
-
DOI 10.1067/mpd.2001.111818
-
Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA. Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr. 2001;138:383-9. (Pubitemid 32207142)
-
(2001)
Journal of Pediatrics
, vol.138
, Issue.3
, pp. 383-389
-
-
Hsu, B.Y.L.1
Kelly, A.2
Thornton, P.S.3
Greenberg, C.R.4
Dilling, L.A.5
Stanley, C.A.6
-
16
-
-
56849124017
-
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome
-
Bahi-Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, et al. Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol. 2008;50:945-9.
-
(2008)
Dev Med Child Neurol
, vol.50
, pp. 945-949
-
-
Bahi-Buisson, N.1
Roze, E.2
Dionisi, C.3
Escande, F.4
Valayannopoulos, V.5
Feillet, F.6
-
17
-
-
48249154650
-
Persistent hyperinsulinemic hypoglycemia and maturityonset diabetes of the young due to heterozygous HNF4A mutations
-
Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, et al. Persistent hyperinsulinemic hypoglycemia and maturityonset diabetes of the young due to heterozygous HNF4A mutations. Diabetes. 2008;57:1659-63.
-
(2008)
Diabetes
, vol.57
, pp. 1659-1663
-
-
Kapoor, R.R.1
Locke, J.2
Colclough, K.3
Wales, J.4
Conn, J.J.5
Hattersley, A.T.6
-
18
-
-
3242770556
-
Severe persistent hyperinsulinemic hypoglycemic due to a de novo glucokinase mutation
-
DOI 10.2337/diabetes.53.8.2164
-
Cuesta-Muñoz AL, Huopio H, Otonkoski T, Gomez-Zumaquero JM, Näntö-Salonen K, Rahier J, et al. Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. Diabetes. 2004;53:2164-8. (Pubitemid 38970771)
-
(2004)
Diabetes
, vol.53
, Issue.8
, pp. 2164-2168
-
-
Cuesta-Munoz, A.L.1
Huopio, H.2
Otonkoski, T.3
Gomez-Zumaquero, J.M.4
Nanto-Salonen, K.5
Rahier, J.6
Lopez-Enriquez, S.7
Garcia-Gimeno, M.A.8
Sanz, P.9
Soriguer, F.C.10
Laakso, M.11
-
19
-
-
0035721309
-
Hyperinsulinaemic hypoglycaemia - Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)
-
DOI 10.1023/A:1013944308881
-
Bohles H, Sewell AA, Gebhardt B, Reinecke-Luthge A, Kloppel G, Marquardt T. Hyperinsulinaemic hypoglycaemia -leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency). J Inherit Metab Dis. 2001;24:858-62. (Pubitemid 34189397)
-
(2001)
Journal of Inherited Metabolic Disease
, vol.24
, Issue.8
, pp. 858-862
-
-
Bohles, H.1
Sewell, A.C.2
Gebhardt, B.3
Reinecke-Luthge, A.4
Kloppel, G.5
Marquardt, T.6
-
21
-
-
3142743435
-
Neonatal hypoglycemia in a growth hormone registry: Incidence and pathogenesis
-
Bell JJ, August GP, Blethen SL, Baptista J. Neonatal hypoglycemia in a growth hormone registry: Incidence and pathogenesis. J Pediatr Endocrinol Metab. 2004;17:629-35. (Pubitemid 38931059)
-
(2004)
Journal of Pediatric Endocrinology and Metabolism
, vol.17
, Issue.4
, pp. 629-635
-
-
Bell, J.J.1
August, G.P.2
Blethen, S.L.3
Baptista, J.4
-
22
-
-
0031916623
-
Persistent neonatal hypoglycemia: An unusual finding of congenital hypothyroidism
-
Kurtoǧlu S, Tutu? A, Aydin K, Genç E, Caksen H. Persistent neonatal hypoglycemia: An unusual finding of congenital hypothyroidism. J Pediatr Endocrinol Metab. 1998;11:277-9. (Pubitemid 28180637)
-
(1998)
Journal of Pediatric Endocrinology and Metabolism
, vol.11
, Issue.2
, pp. 277-279
-
-
Kurtoglu, S.1
Tutus, A.2
Aydin, K.3
Genc, E.4
Caksen, H.5
-
23
-
-
84884356419
-
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: A French pediatric study of 187 patients
-
doi:10.1007/s10545-012-9542-6
-
Baruteau J, Sachs P, Broué P, Brivet M, Abdoul H, Vianey-Saban C, et al. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: A French pediatric study of 187 patients. J Inherit Metab Dis. 2012. doi:10.1007/s10545-012-9542-6.
-
(2012)
J Inherit Metab Dis
-
-
Baruteau, J.1
Sachs, P.2
Broué, P.3
Brivet, M.4
Abdoul, H.5
Vianey-Saban, C.6
-
24
-
-
0025129387
-
Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
-
Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis. 1990;13:321-4. (Pubitemid 20338872)
-
(1990)
Journal of Inherited Metabolic Disease
, vol.13
, Issue.3
, pp. 321-324
-
-
Millington, D.S.1
Kodo, N.2
Norwood, D.L.3
Roe, C.R.4
-
25
-
-
79956225940
-
Glucose-6-phosphatase deficiency
-
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, et al. Glucose-6-phosphatase deficiency. Orphanet J Rare Dis. 2011;6:27.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 27
-
-
Froissart, R.1
Piraud, M.2
Boudjemline, A.M.3
Vianey-Saban, C.4
Petit, F.5
Hubert-Buron, A.6
-
26
-
-
0032145145
-
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type O
-
Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P, et al. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. 1998;102:507-15. (Pubitemid 28376153)
-
(1998)
Journal of Clinical Investigation
, vol.102
, Issue.3
, pp. 507-515
-
-
Orho, M.1
Bosshard, N.U.2
Buist, N.R.M.3
Gitzelmann, R.4
Aynsley-Green, A.5
Blumel, P.6
Gannon, M.C.7
Nuttall, F.Q.8
Groop, L.C.9
-
27
-
-
84858956352
-
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III
-
Mili A, Ben Charfeddine I, Mamai O, Abdelhak S, Adala L, Amara A, et al. Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. J Hum Genet. 2012;57:170-5.
-
(2012)
J Hum Genet
, vol.57
, pp. 170-175
-
-
Mili, A.1
Ben Charfeddine, I.2
Mamai, O.3
Abdelhak, S.4
Adala, L.5
Amara, A.6
-
28
-
-
0015381503
-
Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy
-
Pagliara AS, Karl IE, Keating JP, Brown BI, Kipnis DM. Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy. J Clin Invest. 1972;51:2115-23.
-
(1972)
J Clin Invest
, vol.51
, pp. 2115-2123
-
-
Pagliara, A.S.1
Karl, I.E.2
Keating, J.P.3
Brown, B.I.4
Kipnis, D.M.5
-
29
-
-
0029742931
-
Disorders of gluconeogenesis
-
van den Berghe G. Disorders of gluconeogenesis. J Inherit Metab Dis. 1996;19:470-7.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 470-477
-
-
Van Den Berghe, G.1
-
31
-
-
0017258894
-
Two cases of phosphoenolpyruvate carboxykinase deficiency
-
Hommes FA, Bendien K, Elema JD, Bremer HJ, Lombeck I. Two cases of phosphoenolpyruvate carboxykinase deficiency. Acta Paediatr Scand. 1976;65:233-40.
-
(1976)
Acta Paediatr Scand
, vol.65
, pp. 233-240
-
-
Hommes, F.A.1
Bendien, K.2
Elema, J.D.3
Bremer, H.J.4
Lombeck, I.5
-
32
-
-
29944446494
-
Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects
-
DOI 10.1002/ana.20709
-
Garcia-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, et al. Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects. Ann Neurol. 2006;59:121-7. (Pubitemid 43042878)
-
(2006)
Annals of Neurology
, vol.59
, Issue.1
, pp. 121-127
-
-
Garcia-Cazorla, A.1
Rabier, D.2
Touati, G.3
Chadefaux-Vekemans, B.4
Marsac, C.5
De Lonlay, P.6
Saudubray, J.-M.7
-
33
-
-
79955143777
-
Investigations for neonatal hypoglycaemia
-
Hussain K. Investigations for neonatal hypoglycaemia. Clin Biochem. 2011;44:465-6.
-
(2011)
Clin Biochem
, vol.44
, pp. 465-466
-
-
Hussain, K.1
-
34
-
-
79956122529
-
Update on investigating hypoglycaemia in childhood
-
Lang TF. Update on investigating hypoglycaemia in childhood. Ann Clin Biochem. 2011;48:200-11.
-
(2011)
Ann Clin Biochem
, vol.48
, pp. 200-211
-
-
Lang, T.F.1
-
35
-
-
34548476283
-
Management of neonatal endocrinopathies-Best practice guidelines
-
DOI 10.1016/j.earlhumdev.2007.05.001, PII S0378378207001016
-
Peters CJ, Hindmarsh PC. Management of neonatal endocrinopathies- best practice guidelines. Early Hum Dev. 2007;83:553-61. (Pubitemid 47380136)
-
(2007)
Early Human Development
, vol.83
, Issue.9
, pp. 553-561
-
-
Peters, C.J.1
Hindmarsh, P.C.2
-
36
-
-
21444450978
-
The investigation and management of neonatal hypoglycaemia
-
DOI 10.1016/j.siny.2005.04.002, PII S1744165X05000193, Glucose Control in the Perinatal Period
-
Deshpande S, Ward PM. The investigation and management of neonatal hypoglycaemia. Semin Fetal Neonatal Med. 2005;10:351-61. (Pubitemid 40917322)
-
(2005)
Seminars in Fetal and Neonatal Medicine
, vol.10
, Issue.4
, pp. 351-361
-
-
Deshpande, S.1
Platt, M.W.2
-
37
-
-
79952203402
-
Postnatal glucose homeostasis in late-preterm and term infants
-
Committee on Fetus and Newborn
-
Committee on Fetus and Newborn, Adamkin DH. Postnatal glucose homeostasis in late-preterm and term infants. Pediatrics. 2011;127:575-9.
-
(2011)
Pediatrics
, vol.127
, pp. 575-579
-
-
Adamkin, D.H.1
-
38
-
-
79951951211
-
Investigation of the child with an acute metabolic disorder
-
Cook P, Walker V. Investigation of the child with an acute metabolic disorder. J Clin Pathol. 2011;64:181-91.
-
(2011)
J Clin Pathol
, vol.64
, pp. 181-191
-
-
Cook, P.1
Walker, V.2
-
39
-
-
1542611549
-
Should nifedipine be used to counter low blood sugar levels in children with persistent hyperinsulinaemic hypoglycaemia?
-
Muller D, Zimmering M, Roehr CC. Should nifedipine be used to counter low blood sugar levels in children with persistent hyperinsulinaemic hypoglycaemia? Arch Dis Child. 2004;89:83-5.
-
(2004)
Arch Dis Child
, vol.89
, pp. 83-85
-
-
Muller, D.1
Zimmering, M.2
Roehr, C.C.3
|