-
1
-
-
0000044868
-
Mitochondrial fatty acid oxidation disorders
-
Scriver CR, Beaudet AL, Sly WS, et al, eds, 8th edn. New York: McGraw-Hill
-
Roe CR, Ding J. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The metabolic and molecular bases of inherited disease. 8th edn. New York: McGraw-Hill, 2001:2297-326.
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 2297-2326
-
-
Roe, C.R.1
Ding, J.2
-
2
-
-
0031904754
-
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
-
Pollitt RJ, Leonard JV. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child 1998;79:116-19.
-
(1998)
Arch Dis Child
, vol.79
, pp. 116-119
-
-
Pollitt, R.J.1
Leonard, J.V.2
-
3
-
-
10744220156
-
Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany
-
Hoffmann GF, von Kries R, Klose D, et al. Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr 2004;163:76-80.
-
(2004)
Eur J Pediatr
, vol.163
, pp. 76-80
-
-
Hoffmann, G.F.1
von Kries, R.2
Klose, D.3
-
4
-
-
23644436184
-
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: A genetic epidemiological study
-
Derks TG, Duran M, Waterham HR, et al. The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. Eur J Hum Genet 2005;13:947-52.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 947-952
-
-
Derks, T.G.1
Duran, M.2
Waterham, H.R.3
-
5
-
-
0036895771
-
Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany
-
Klose DA, Kölker S, Heinrich B, et al. Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany. Pediatrics 2002;110:1204-11.
-
(2002)
Pediatrics
, vol.110
, pp. 1204-1211
-
-
Klose, D.A.1
Kölker, S.2
Heinrich, B.3
-
6
-
-
0033224545
-
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review
-
Wang SS, Fernhoff PM, Hannon WH, et al. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med 1999;1:332-9.
-
(1999)
Genet Med
, vol.1
, pp. 332-339
-
-
Wang, S.S.1
Fernhoff, P.M.2
Hannon, W.H.3
-
7
-
-
0037116889
-
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
-
Wilcken B, Carpenter K, Wiley V. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet 2002;359:627-8.
-
(2002)
Lancet
, vol.359
, pp. 627-628
-
-
Wilcken, B.1
Carpenter, K.2
Wiley, V.3
-
8
-
-
0035968582
-
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
-
Pourfarzam M, Morris A, Appleton M, et al. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet 2001;358:1063-1.
-
(2001)
Lancet
, vol.358
, pp. 1063-1071
-
-
Pourfarzam, M.1
Morris, A.2
Appleton, M.3
-
9
-
-
33646775349
-
The epidemiology of medium chain acyl- CoA dehydrogenase deficiency: An update
-
Grosse SD, Khoury MJ, Greene CL, et al. The epidemiology of medium chain acyl- CoA dehydrogenase deficiency: an update. Genet Med 2006;8:205-12.
-
(2006)
Genet Med
, vol.8
, pp. 205-212
-
-
Grosse, S.D.1
Khoury, M.J.2
Greene, C.L.3
-
10
-
-
0028265830
-
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
-
Iafolla AK, Thompson RJ Jr, Roe CR. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 1994;124:409-15.
-
(1994)
J Pediatr
, vol.124
, pp. 409-415
-
-
Iafolla, A.K.1
Thompson Jr, R.J.2
Roe, C.R.3
-
11
-
-
0032920880
-
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis
-
Wilson CJ, Champion MP, Collins JE, et al. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child 1999;80:459-62.
-
(1999)
Arch Dis Child
, vol.80
, pp. 459-462
-
-
Wilson, C.J.1
Champion, M.P.2
Collins, J.E.3
-
12
-
-
0034956576
-
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
-
Chace DH, DiPerna JC, Mitchell BL, et al. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 2001;47:1166-82.
-
(2001)
Clin Chem
, vol.47
, pp. 1166-1182
-
-
Chace, D.H.1
DiPerna, J.C.2
Mitchell, B.L.3
-
13
-
-
0022991503
-
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency
-
Duran M, Hofkamp M, Rhead WJ, at al. Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics 1986;78:1052-7.
-
(1986)
Pediatrics
, vol.78
, pp. 1052-1057
-
-
Duran, M.1
Hofkamp, M.2
Rhead, W.J.3
at al4
-
14
-
-
33646918012
-
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome
-
Derks TG, Reijngoud DJ, Waterham HR, et al. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Padiatr 2006;148:665-70.
-
(2006)
J Padiatr
, vol.148
, pp. 665-670
-
-
Derks, T.G.1
Reijngoud, D.J.2
Waterham, H.R.3
-
15
-
-
0026448020
-
Intercurrent illness in inborn errors of intermediary metabolism
-
Dixon MA, Leonard JV. Intercurrent illness in inborn errors of intermediary metabolism. Arch Dis Child 1992;67:1387-91.
-
(1992)
Arch Dis Child
, vol.67
, pp. 1387-1391
-
-
Dixon, M.A.1
Leonard, J.V.2
-
16
-
-
0031160458
-
Early recognition of metabolic decompensation
-
Morris AA, Leonard JV. Early recognition of metabolic decompensation. Arch Dis Child 1997;76:555-6.
-
(1997)
Arch Dis Child
, vol.76
, pp. 555-556
-
-
Morris, A.A.1
Leonard, J.V.2
-
17
-
-
0023488951
-
New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency
-
Stanley CA. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Adv Padiatr 1987;34:59-88.
-
(1987)
Adv Padiatr
, vol.34
, pp. 59-88
-
-
Stanley, C.A.1
-
18
-
-
19444384285
-
L-carnitine and exercise tolerance in medium- chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study
-
Lee PJ, Harrison EL, Jones MG, at al. L-carnitine and exercise tolerance in medium- chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. J Inherit Matab Dis 2005;28:141-52.
-
(2005)
J Inherit Matab Dis
, vol.28
, pp. 141-152
-
-
Lee, P.J.1
Harrison, E.L.2
Jones, M.G.3
at al4
-
19
-
-
33748685033
-
-
Huidekoper HH, Schneider J, Westphal T, et al. Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency. J Inharit Matab Dis 2006;29:631-6.
-
Huidekoper HH, Schneider J, Westphal T, et al. Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency. J Inharit Matab Dis 2006;29:631-6.
-
-
-
-
20
-
-
84895303529
-
Disorders of fatty acid oxidation and related metabolic pathways
-
Fernandes J, Saububray JM, van den Berghe G, at al, eds, 4th edn. Heidelberg: Springer
-
Stanley CA, Bennet MJ, Mayatapek E. Disorders of fatty acid oxidation and related metabolic pathways. In: Fernandes J, Saububray JM, van den Berghe G, at al, eds. Inborn matabolic disaasas: diagnosis and traatmant. 4th edn. Heidelberg: Springer, 2006:175-90.
-
(2006)
Inborn matabolic disaasas: Diagnosis and traatmant
, pp. 175-190
-
-
Stanley, C.A.1
Bennet, M.J.2
Mayatapek, E.3
-
21
-
-
0038042475
-
L-carnitine in inborn errors of metabolism: What is the evidence?
-
Walter JH. L-carnitine in inborn errors of metabolism: what is the evidence? J Inharit Matab Dis 2003;26:181-8.
-
(2003)
J Inharit Matab Dis
, vol.26
, pp. 181-188
-
-
Walter, J.H.1
-
22
-
-
33745098087
-
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective
-
Rhead WJ. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. J Inharit Matab Dis 2006;29:370-7.
-
(2006)
J Inharit Matab Dis
, vol.29
, pp. 370-377
-
-
Rhead, W.J.1
-
23
-
-
0031903920
-
-
Clayton PT, Doig M, Ghafari S, et al. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Arch Dis Child 1998;79:109-15.
-
Clayton PT, Doig M, Ghafari S, et al. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Arch Dis Child 1998;79:109-15.
-
-
-
-
24
-
-
0034865493
-
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
-
Carpenter K, Wiley V, Sim KG, at al. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies. Arch Dis Child Fatal Naonatal Ed 2001;85:F105-9.
-
(2001)
Arch Dis Child Fatal Naonatal Ed
, vol.85
-
-
Carpenter, K.1
Wiley, V.2
Sim, K.G.3
at al4
-
25
-
-
40849114653
-
-
Derks TG, Boer TS, van Assen A, et al. Neonatal screening for medium-chain acyl- CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. J Inharit Matab Dis 2008;31:88-96.
-
Derks TG, Boer TS, van Assen A, et al. Neonatal screening for medium-chain acyl- CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. J Inharit Matab Dis 2008;31:88-96.
-
-
-
-
26
-
-
1842486054
-
-
Lehotay DC, LePage J, Thompson JR, et al. Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype? J Inharit Matab Dis 2004;27:81-8.
-
Lehotay DC, LePage J, Thompson JR, et al. Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype? J Inharit Matab Dis 2004;27:81-8.
-
-
-
-
27
-
-
0034985656
-
-
Andresen BS, Dobrowolski SF, O'Reilly L, et al. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Ganat 2001;68:1408-18.
-
Andresen BS, Dobrowolski SF, O'Reilly L, et al. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Ganat 2001;68:1408-18.
-
-
-
-
28
-
-
0031013581
-
-
Tanaka K, Gregersen N, Ribes A, et al. A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl- CoA dehydrogenase gene locus: clinical and evolutionary consideration. Padiatr Ras 1997;41:201-9.
-
Tanaka K, Gregersen N, Ribes A, et al. A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl- CoA dehydrogenase gene locus: clinical and evolutionary consideration. Padiatr Ras 1997;41:201-9.
-
-
-
-
29
-
-
0842330592
-
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships
-
Gregersen N, Bross P, Andresen BS. Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships. Eur J Biocham 2004;271:470-82.
-
(2004)
Eur J Biocham
, vol.271
, pp. 470-482
-
-
Gregersen, N.1
Bross, P.2
Andresen, B.S.3
-
30
-
-
17844379219
-
-
Zschocke J, Schulze A, Lindner M, et al. Molecular and functional characterisation of mild MCAD deficiency. Hum Ganat 2001;108:404-8.
-
Zschocke J, Schulze A, Lindner M, et al. Molecular and functional characterisation of mild MCAD deficiency. Hum Ganat 2001;108:404-8.
-
-
-
-
31
-
-
60549100027
-
-
Khalid JM, Oerton J, Cortina-Borja M, et al. Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants. J Mad Scraan 2008;15:112-7.
-
Khalid JM, Oerton J, Cortina-Borja M, et al. Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants. J Mad Scraan 2008;15:112-7.
-
-
-
-
32
-
-
0028899006
-
-
Ziadeh R, Hoffman EP, Finegold DN, et al. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Padiatr Ras 1995;37:675-8.
-
Ziadeh R, Hoffman EP, Finegold DN, et al. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Padiatr Ras 1995;37:675-8.
-
-
-
-
33
-
-
44449105719
-
-
Hsu HW, Zytkovicz TH, Comeau AM, et al. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Padiatrics 2008;121:e1108-14.
-
Hsu HW, Zytkovicz TH, Comeau AM, et al. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Padiatrics 2008;121:e1108-14.
-
-
-
-
34
-
-
21144446866
-
-
Nennstiel-Ratzel U, Arenz S, Maier EM, et al. Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening. Mol Genat Metab 2005;85:157-9.
-
Nennstiel-Ratzel U, Arenz S, Maier EM, et al. Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening. Mol Genat Metab 2005;85:157-9.
-
-
-
-
35
-
-
61449228064
-
-
NHS. Antenatal and newborn screening programmes. MCADD Screening Programme. See http://www.newbornbloodspot.screening.nhs.uk/mcadd/index.htm (accessed 29 October 2008).
-
NHS. Antenatal and newborn screening programmes. MCADD Screening Programme. See http://www.newbornbloodspot.screening.nhs.uk/mcadd/index.htm (accessed 29 October 2008).
-
-
-
-
36
-
-
61449206857
-
-
British Inherited Metabolic Disease Group, accessed 29 October 2008
-
British Inherited Metabolic Disease Group. Emergency protocols. MCAD deficiency guidelines. See http://www.bimdg.org.uk/mcadd.asp?TopicID=11 (accessed 29 October 2008).
-
Emergency protocols. MCAD deficiency guidelines. See
-
-
-
37
-
-
0028949363
-
-
Ruitenbeek W, Poels PJ, Turnbull DM, et al. Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency. J Naurol Naurosurg Psychiatry 1995;58:209-14.
-
Ruitenbeek W, Poels PJ, Turnbull DM, et al. Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency. J Naurol Naurosurg Psychiatry 1995;58:209-14.
-
-
-
-
38
-
-
0028912930
-
Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency
-
Patel JS, Leonard JV. Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency. J Inharit Matab Dis 1995;18:98-9.
-
(1995)
J Inharit Matab Dis
, vol.18
, pp. 98-99
-
-
Patel, J.S.1
Leonard, J.V.2
|