-
1
-
-
0025694816
-
The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states
-
Bonnefont JP, Specola NB, Vassault A, Lombes A, Ogier H, de Klerk JB, Munnich A, Coude M, Paturneau-Jouas M, Saudubray JM (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr 150(2):80-85
-
(1990)
Eur J Pediatr
, vol.150
, Issue.2
, pp. 80-85
-
-
Bonnefont, J.P.1
Specola, N.B.2
Vassault, A.3
Lombes, A.4
Ogier, H.5
De Klerk, J.B.6
Munnich, A.7
Coude, M.8
Paturneau-Jouas, M.9
Saudubray, J.M.10
-
2
-
-
23644436184
-
The difference between observed and expected prevalence of MCAD deficiency in the Netherlands: A genetic epidemiological study
-
Derks TG, Duran M, Waterham HR, Reijngoud DJ, Ten Kate LP, Smit GP (2005) The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. Eur J Hum Genet 13(8):947-952
-
(2005)
Eur J Hum Genet
, vol.13
, Issue.8
, pp. 947-952
-
-
Derks, T.G.1
Duran, M.2
Waterham, H.R.3
Reijngoud, D.J.4
Ten Kate, L.P.5
Smit, G.P.6
-
3
-
-
7544223274
-
Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme
-
Derks TG, Jakobs H, Gerding A, Niezen-Koning KE, Reijngoud DJ, Smit GP (2004) Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme. Ned Tijdschr Geneeskd 148(44):2185-2190
-
(2004)
Ned Tijdschr Geneeskd
, vol.148
, Issue.44
, pp. 2185-2190
-
-
Derks, T.G.1
Jakobs, H.2
Gerding, A.3
Niezen-Koning, K.E.4
Reijngoud, D.J.5
Smit, G.P.6
-
4
-
-
0026448020
-
Intercurrent illness in inborn errors of intermediary metabolism
-
Dixon MA, Leonard JV (1992) Intercurrent illness in inborn errors of intermediary metabolism. Arch Dis Child 67(11):1387-1391
-
(1992)
Arch Dis Child
, vol.67
, Issue.11
, pp. 1387-1391
-
-
Dixon, M.A.1
Leonard, J.V.2
-
5
-
-
0021998571
-
Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids
-
Duran M, Mitchell G, de Klerk JB, de Jager JP, Hofkamp M, Bruinvis L, Ketting D, Saudubray JM, Wadman SK (1985) Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids. J Pediatr 107(3):397-404
-
(1985)
J Pediatr
, vol.107
, Issue.3
, pp. 397-404
-
-
Duran, M.1
Mitchell, G.2
De Klerk, J.B.3
De Jager, J.P.4
Hofkamp, M.5
Bruinvis, L.6
Ketting, D.7
Saudubray, J.M.8
Wadman, S.K.9
-
6
-
-
0035112892
-
Fasting medium chain acyl-coenzyme A dehydrogenase-deficient children can make ketones
-
Fletcher JM, Pitt JJ (2001) Fasting medium chain acyl-coenzyme A dehydrogenase-deficient children can make ketones. Metabolism 50(2):161-165
-
(2001)
Metabolism
, vol.50
, Issue.2
, pp. 161-165
-
-
Fletcher, J.M.1
Pitt, J.J.2
-
7
-
-
0020045023
-
Differences in circulating gluconeogenic substrates during short-term fasting in men, women, and children
-
Haymond MW, Karl IE, Clarke WL, Pagliara AS, Santiago JV (1982) Differences in circulating gluconeogenic substrates during short-term fasting in men, women, and children. Metabolism 31(1):33-42
-
(1982)
Metabolism
, vol.31
, Issue.1
, pp. 33-42
-
-
Haymond, M.W.1
Karl, I.E.2
Clarke, W.L.3
Pagliara, A.S.4
Santiago, J.V.5
-
8
-
-
0028265830
-
Medium-chain acylcoenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
-
Iafolla AK, Thompson RJ Jr, Roe CR (1994) Medium-chain acylcoenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 124(3):409-415
-
(1994)
J Pediatr
, vol.124
, Issue.3
, pp. 409-415
-
-
Iafolla, A.K.1
Thompson Jr., R.J.2
Roe, C.R.3
-
9
-
-
0020546010
-
Metabolic and hormonal responses of children and adolescents to fasting and 2-deoxyglucose
-
Kerr DS, Hansen IL, Levy MM (1983) Metabolic and hormonal responses of children and adolescents to fasting and 2-deoxyglucose. Metabolism 32(10):951-959
-
(1983)
Metabolism
, vol.32
, Issue.10
, pp. 951-959
-
-
Kerr, D.S.1
Hansen, I.L.2
Levy, M.M.3
-
10
-
-
0023736452
-
Neural dysfunction during hypoglycaemia
-
Koh TH, Aynsley-Green A, Tarbit M, Eyre JA (1988) Neural dysfunction during hypoglycaemia. Arch Dis Child 63(11):1353-1358
-
(1988)
Arch Dis Child
, vol.63
, Issue.11
, pp. 1353-1358
-
-
Koh, T.H.1
Aynsley-Green, A.2
Tarbit, M.3
Eyre, J.A.4
-
11
-
-
0022346553
-
The concentration of blood components related to fuel metabolism during prolonged fasting in children
-
Lamers KJ, Doesburg WH, Gabreels FJ, Lemmens WA, Romsom AC, Wevers RA, Renier WO (1985) The concentration of blood components related to fuel metabolism during prolonged fasting in children. Clin Chim Acta 152(1-2):155-163
-
(1985)
Clin Chim Acta
, vol.152
, Issue.1-2
, pp. 155-163
-
-
Lamers, K.J.1
Doesburg, W.H.2
Gabreels, F.J.3
Lemmens, W.A.4
Romsom, A.C.5
Wevers, R.A.6
Renier, W.O.7
-
12
-
-
0021967157
-
Reference values of blood components related to fuel metabolism in children after an overnight fast
-
Lamers KJ, Doesburg WH, Gabreels FJ, Romsom AC, Renier WO, Wevers RA, Lemmens WA (1985) Reference values of blood components related to fuel metabolism in children after an overnight fast. Clin Chim Acta 145(1):17-26
-
(1985)
Clin Chim Acta
, vol.145
, Issue.1
, pp. 17-26
-
-
Lamers, K.J.1
Doesburg, W.H.2
Gabreels, F.J.3
Romsom, A.C.4
Renier, W.O.5
Wevers, R.A.6
Lemmens, W.A.7
-
13
-
-
17344383506
-
Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review
-
Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S (2004) Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess 8(12): 1-121
-
(2004)
Health Technol Assess
, vol.8
, Issue.12
, pp. 1-121
-
-
Pandor, A.1
Eastham, J.2
Beverley, C.3
Chilcott, J.4
Paisley, S.5
-
14
-
-
0000044868
-
Mitochondrial fatty acid oxidation disorders
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
-
Roe CR, Ding J (2001) Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 2297-2326
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, 8th Edn.
, pp. 2297-2326
-
-
Roe, C.R.1
Ding, J.2
-
15
-
-
0031904754
-
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
-
Pollitt RJ, Leonard JV (1998) Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child 79(2):116-119
-
(1998)
Arch Dis Child
, vol.79
, Issue.2
, pp. 116-119
-
-
Pollitt, R.J.1
Leonard, J.V.2
-
16
-
-
0025159514
-
Acylcarnitines in the urine of a patient with medium chain acyl-CoA dehydrogenase (MCAD) deficiency and in normal children
-
Schmidt-Sommerfeld E, Penn D, Kerner J, Bieber LL (1993) Acylcarnitines in the urine of a patient with medium chain acyl-CoA dehydrogenase (MCAD) deficiency and in normal children. Prog Clin Biol Res 321:403-409
-
(1993)
Prog Clin Biol Res
, vol.321
, pp. 403-409
-
-
Schmidt-Sommerfeld, E.1
Penn, D.2
Kerner, J.3
Bieber, L.L.4
-
17
-
-
11244319540
-
Acceptance of extended newborn screening: The problem of parental non-compliance
-
Sewell AC, Gebhardt B, Herwig J, Rauterberg EW (2004) Acceptance of extended newborn screening: the problem of parental non-compliance. Eur J Pediatr 163(12):755-756
-
(2004)
Eur J Pediatr
, vol.163
, Issue.12
, pp. 755-756
-
-
Sewell, A.C.1
Gebhardt, B.2
Herwig, J.3
Rauterberg, E.W.4
-
18
-
-
0036884407
-
Management of fatty acid oxidation disorders: A survey of current treatment strategies
-
Solis JO, Singh RH (2002) Management of fatty acid oxidation disorders: a survey of current treatment strategies. J Am Diet Assoc 102(12):1800-1803
-
(2002)
J Am Diet Assoc
, vol.102
, Issue.12
, pp. 1800-1803
-
-
Solis, J.O.1
Singh, R.H.2
-
19
-
-
0027024866
-
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene
-
Tanaka K, Yokota I, Coates PM, Strauss AW, Kelly DP, Zhang Z, Gregersen N, Andresen BS, Matsubara Y, Curtis D (1992) Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mut 1(4):271-279
-
(1992)
Hum Mut
, vol.1
, Issue.4
, pp. 271-279
-
-
Tanaka, K.1
Yokota, I.2
Coates, P.M.3
Strauss, A.W.4
Kelly, D.P.5
Zhang, Z.6
Gregersen, N.7
Andresen, B.S.8
Matsubara, Y.9
Curtis, D.10
-
20
-
-
0026530558
-
Medium chain acyl-CoA dehydrogenase deficiency
-
Touma EH, Charpentier C (1992) Medium chain acyl-CoA dehydrogenase deficiency. Arch Dis Child 67(1):142-145
-
(1992)
Arch Dis Child
, vol.67
, Issue.1
, pp. 142-145
-
-
Touma, E.H.1
Charpentier, C.2
-
21
-
-
0024336465
-
Medium-chain acyl-CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation
-
Treem WR, Stanley CA, Goodman SI (1989) Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation. J Inherit Metab Dis 12(2):112-119
-
(1989)
J Inherit Metab Dis
, vol.12
, Issue.2
, pp. 112-119
-
-
Treem, W.R.1
Stanley, C.A.2
Goodman, S.I.3
-
22
-
-
0023027683
-
The diagnosis and treatment of a patient with medium-chain acyl-CoA dehydrogenase deficiency: Overnight fasting does not result in the expected urinary metabolite profile
-
van Gennip AH, Bakker HD, Duran M, van Oudheusden LJ (1986) The diagnosis and treatment of a patient with medium-chain acyl-CoA dehydrogenase deficiency: overnight fasting does not result in the expected urinary metabolite profile. J Inherit Metab Dis 9(Suppl 2):293-296
-
(1986)
J Inherit Metab Dis
, vol.9
, Issue.SUPPL. 2
, pp. 293-296
-
-
Van Gennip, A.H.1
Bakker, H.D.2
Duran, M.3
Van Oudheusden, L.J.4
-
23
-
-
0344081182
-
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
-
Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL (2003) Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 290(19):2564-2572
-
(2003)
JAMA
, vol.290
, Issue.19
, pp. 2564-2572
-
-
Waisbren, S.E.1
Albers, S.2
Amato, S.3
Ampola, M.4
Brewster, T.G.5
Demmer, L.6
Eaton, R.B.7
Greenstein, R.8
Korson, M.9
Larson, C.10
Marsden, D.11
Msall, M.12
Naylor, E.W.13
Pueschel, S.14
Seashore, M.15
Shih, V.E.16
Levy, H.L.17
-
24
-
-
0036880964
-
Newborn screening compared to clinical identification of biochemical genetic disorders
-
Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R, Ingham CL, Korson M, Msall M, Pueschel S, Seashore M, Shih VE, Levy HL (2002) Newborn screening compared to clinical identification of biochemical genetic disorders. J Inherit Metab Dis 25(7):599-600
-
(2002)
J Inherit Metab Dis
, vol.25
, Issue.7
, pp. 599-600
-
-
Waisbren, S.E.1
Read, C.Y.2
Ampola, M.3
Brewster, T.G.4
Demmer, L.5
Greenstein, R.6
Ingham, C.L.7
Korson, M.8
Msall, M.9
Pueschel, S.10
Seashore, M.11
Shih, V.E.12
Levy, H.L.13
-
25
-
-
0038042475
-
L-carnitine in inborn errors of metabolism: What is the evidence?
-
Walter JH (2003) L-carnitine in inborn errors of metabolism: what is the evidence? J Inherit Metab Dis 26(2-3):181-188
-
(2003)
J Inherit Metab Dis
, vol.26
, Issue.2-3
, pp. 181-188
-
-
Walter, J.H.1
-
26
-
-
0028285747
-
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency
-
Wilcken B, Hammond J, Silink M (1994) Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. Arch Dis Child 70(5):410-412
-
(1994)
Arch Dis Child
, vol.70
, Issue.5
, pp. 410-412
-
-
Wilcken, B.1
Hammond, J.2
Silink, M.3
-
27
-
-
0032920880
-
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis
-
Wilson CJ, Champion MP, Collins JE, Clayton PT, Leonard JV (1999) Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child 80(5):459-462
-
(1999)
Arch Dis Child
, vol.80
, Issue.5
, pp. 459-462
-
-
Wilson, C.J.1
Champion, M.P.2
Collins, J.E.3
Clayton, P.T.4
Leonard, J.V.5
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