-
1
-
-
0033069578
-
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
-
1:CAS:528:DyaK1MXhslOltLs%3D 10.1086/302261 9973285
-
BS Andresen S Olpin BJ Poorthuis, et al. 1999 Clear correlation of genotype with disease phenotype In very-long-chain acyl-CoA dehydrogenase deficiency Am J Hum Genet 64 479 494 1:CAS:528:DyaK1MXhslOltLs%3D 10.1086/302261 9973285
-
(1999)
Am J Hum Genet
, vol.64
, pp. 479-494
-
-
Andresen, B.S.1
Olpin, S.2
Poorthuis, B.J.3
-
2
-
-
0034985656
-
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
-
DOI 10.1086/320602
-
BS Andresen SF Dobrowolski L O'Reilly, et al. 2001 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 Genet 68 1408 1418 1:CAS:528:DC%2BD3MXltFeqsLk%3D 10.1086/320602 11349232 (Pubitemid 32510616)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.6
, pp. 1408-1418
-
-
Andresen, B.S.1
Dobrowolski, S.F.2
O'Reilly, L.3
Muenzer, J.4
McCandless, S.E.5
Frazier, D.M.6
Udvari, S.7
Bross, P.8
Knudsen, I.9
Banas, R.10
Chace, D.H.11
Engel, P.12
Naylor, E.W.13
Gregersen, N.14
-
3
-
-
0036140895
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients
-
DOI 10.1542/peds.109.1.99
-
ME den Boer RJ Wanders AA Morris, et al. 2002 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients Pediatrics 109 99 104 10.1542/peds.109.1.99 (Pubitemid 34049432)
-
(2002)
Pediatrics
, vol.109
, Issue.1
, pp. 99-104
-
-
Den Boer, M.E.J.1
Wanders, R.J.A.2
Morris, A.A.M.3
Ijlst, L.4
Heymans, H.S.A.5
Wijburg, F.A.6
-
4
-
-
0038132933
-
Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement
-
DOI 10.1067/mpd.2003.231
-
ME den Boer C Dionisi-Vici A Chakrapani, et al. 2003 Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement J Pediatr 142 684 689 10.1067/mpd.2003.231 (Pubitemid 36737173)
-
(2003)
Journal of Pediatrics
, vol.142
, Issue.6
, pp. 684-689
-
-
Den Boer, M.E.J.1
Dionisi-Vici, C.2
Chakrapani, A.3
Van Thuijl, A.O.J.4
Wanders, R.J.A.5
Wijburg, F.A.6
-
5
-
-
33646918012
-
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome
-
DOI 10.1016/j.jpeds.2005.12.028, PII S0022347605011893
-
TG Derks DJ Reijngoud HR Waterham, et al. 2006 The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome J Pediatr 148 665 670 1:CAS:528:DC%2BD28XltFGisr8%3D 10.1016/j.jpeds.2005.12.028 16737882 (Pubitemid 43792500)
-
(2006)
Journal of Pediatrics
, vol.148
, Issue.5
, pp. 665-670
-
-
Derks, T.G.J.1
Reijngoud, D.-J.2
Waterham, H.R.3
Gerver, W.-J.M.4
Van Den Berg, M.P.5
Sauer, P.J.J.6
Smit, G.P.A.7
-
7
-
-
33646775349
-
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update
-
1:CAS:528:DC%2BD28XjsV2hu7c%3D 10.1097/01.gim.0000204472.25153.8d 16617240
-
SD Grosse MJ Khoury CL Greene KS Crider RJ Pollitt 2006 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update Genet Med 8 205 212 1:CAS:528:DC%2BD28XjsV2hu7c%3D 10.1097/01.gim.0000204472.25153.8d 16617240
-
(2006)
Genet Med
, vol.8
, pp. 205-212
-
-
Grosse, S.D.1
Khoury, M.J.2
Greene, C.L.3
Crider, K.S.4
Pollitt, R.J.5
-
8
-
-
5044224205
-
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency
-
DOI 10.1002/humu.20085
-
V Iacobazzi F Invernizzi S Baratta R Pons W Chung B Garavaglia C Dionisi-Vici A Ribes R Parini MD Huertas S Roldan G Lauria F Palmieri F Taroni 2004 Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency Hum Mutat 24 312 320 1:CAS:528:DC%2BD2cXpsVWrs7w%3D 10.1002/humu.20085 15365988 (Pubitemid 39336637)
-
(2004)
Human Mutation
, vol.24
, Issue.4
, pp. 312-320
-
-
Iacobazzi, V.1
Invernizzi, F.2
Baratta, S.3
Pons, R.4
Chung, W.5
Garavaglia, B.6
Dionisi-Vici, C.7
Ribes, A.8
Parini, R.9
Huertas, M.D.10
Roldan, S.11
Lauria, G.12
Palmieri, F.13
Taroni, F.14
-
9
-
-
0028265830
-
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
-
1:STN:280:DyaK2c7msFykuw%3D%3D 10.1016/S0022-3476(94)70363-9 8120710
-
AK Iafolla RJ Thompson Jr CR Roe 1994 Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children J Pediatr 124 409 415 1:STN:280:DyaK2c7msFykuw%3D%3D 10.1016/S0022-3476(94)70363-9 8120710
-
(1994)
J Pediatr
, vol.124
, pp. 409-415
-
-
Iafolla, A.K.1
Thompson Jr., R.J.2
Roe, C.R.3
-
10
-
-
0033819252
-
Liver disease in pregnancy and fetal fatty acid oxidation defects
-
1:CAS:528:DC%2BD3cXms1yju7o%3D 10.1006/mgme.2000.3065 11001809
-
JA Ibdah Z Yang MJ Bennett 2000 Liver disease in pregnancy and fetal fatty acid oxidation defects Mol Genet Metab 71 182 189 1:CAS:528: DC%2BD3cXms1yju7o%3D 10.1006/mgme.2000.3065 11001809
-
(2000)
Mol Genet Metab
, vol.71
, pp. 182-189
-
-
Ibdah, J.A.1
Yang, Z.2
Bennett, M.J.3
-
11
-
-
0028597508
-
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein
-
7811722
-
L IJlst RJ Wanders S Ushikubo T Kamijo T Hashimoto 1994 Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein Biochim Biophys Acta 1215 347 350 7811722
-
(1994)
Biochim Biophys Acta
, vol.1215
, pp. 347-350
-
-
Ijlst, L.1
Wanders, R.J.2
Ushikubo, S.3
Kamijo, T.4
Hashimoto, T.5
-
12
-
-
33646481048
-
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency
-
10.1007/s00431-005-0052-5 16523289
-
F Labarthe JF Benoist M Brivet C Vianey-Saban F Despert HO de Baulny 2006 Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency Eur J Pediatr 165 389 391 10.1007/s00431-005-0052-5 16523289
-
(2006)
Eur J Pediatr
, vol.165
, pp. 389-391
-
-
Labarthe, F.1
Benoist, J.F.2
Brivet, M.3
Vianey-Saban, C.4
Despert, F.5
De Baulny, H.O.6
-
13
-
-
34447260730
-
Carnitine transporter and holocarboxylase synthetase deficiencies in the Faroe Islands
-
1:STN:280:DC%2BD2szntVagtA%3D%3D 10.1007/s10545-007-0527-9 17417720
-
AM Lund F Joensen DM Hougaard, et al. 2007 Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands J Inherit Metab Dis 30 341 349 1:STN:280:DC%2BD2szntVagtA%3D%3D 10.1007/s10545-007-0527-9 17417720
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 341-349
-
-
Lund, A.M.1
Joensen, F.2
Hougaard, D.M.3
-
14
-
-
21044445898
-
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
-
DOI 10.1002/humu.20163
-
EM Maier B Liebl W Roschinger, et al. 2005 Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency Hum Mutat 25 443 452 1:CAS:528:DC%2BD2MXps1Clurs%3D 10.1002/humu.20163 15832312 (Pubitemid 40675293)
-
(2005)
Human Mutation
, vol.25
, Issue.5
, pp. 443-452
-
-
Maier, E.M.1
Liebl, B.2
Roschinger, W.3
Nennstiel-Ratzel, U.4
Fingerhut, R.5
Olgemoller, B.6
Busch, U.7
Krone, N.8
Kries, R.V.9
Roscher, A.A.10
-
15
-
-
0031904754
-
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
-
1:STN:280:DyaK1M%2FhsVehtg%3D%3D 10.1136/adc.79.2.116 9797590
-
RJ Pollitt JV Leonard 1998 Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK Arch Dis Child 79 116 119 1:STN:280:DyaK1M%2FhsVehtg%3D%3D 10.1136/adc.79.2.116 9797590
-
(1998)
Arch Dis Child
, vol.79
, pp. 116-119
-
-
Pollitt, R.J.1
Leonard, J.V.2
-
16
-
-
0035968582
-
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
-
DOI 10.1016/S0140-6736(01)06199-2
-
M Pourfarzam A Morris M Appleton A Craft K Bartlett 2001 Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency Lancet 358 1063 1064 1:CAS:528:DC%2BD3MXntF2qtbY%3D 10.1016/S0140-6736(01)06199-2 11589939 (Pubitemid 32925130)
-
(2001)
Lancet
, vol.358
, Issue.9287
, pp. 1063-1064
-
-
Pourfarzam, M.1
Morris, A.2
Appleton, M.3
Craft, A.4
Bartlett, K.5
-
17
-
-
0000044868
-
Mitochondrial fatty acid oxidation disorders
-
C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Childs K.W. Kinzler B. Vogelstein (eds). McGraw-Hill New York
-
Roe CR, Ding JH (2005) Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease (vol 8). McGraw-Hill, New York, pp 2297-2326
-
(2005)
The Metabolic and Molecular Bases of Inherited Disease (Vol 8)
, pp. 2297-2326
-
-
Roe, C.R.1
Ding, J.H.2
-
18
-
-
19444367222
-
Neonatal screening for defects of the mitochondrial trifunctional protein
-
DOI 10.1016/j.ymgme.2005.02.002, PII S109671920500051X
-
J Sander S Sander U Steuerwald, et al. 2005 Neonatal screening for defects of the mitochondrial trifunctional protein Mol Genet Metab 85 108 114 1:CAS:528:DC%2BD2MXkt1Gnsrg%3D 10.1016/j.ymgme.2005.02.002 15896654 (Pubitemid 40724535)
-
(2005)
Molecular Genetics and Metabolism
, vol.85
, Issue.2
, pp. 108-114
-
-
Sander, J.1
Sander, S.2
Steuerwald, U.3
Janzen, N.4
Peter, M.5
Wanders, R.J.A.6
Marquardt, I.7
Korenke, G.C.8
Das, A.M.9
-
19
-
-
0037903252
-
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations
-
10.1002/humu.10211
-
U Spiekerkoetter B Sun Z Khuchua MJ Bennett AW Strauss 2000 Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations Hum Mutat 21 598 607 10.1002/humu.10211
-
(2000)
Hum Mutat
, vol.21
, pp. 598-607
-
-
Spiekerkoetter, U.1
Sun, B.2
Khuchua, Z.3
Bennett, M.J.4
Strauss, A.W.5
-
20
-
-
69449095345
-
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: Results from a workshop
-
1:STN:280:DC%2BD1MrkslSluw%3D%3D 10.1007/s10545-009-1125-9 19399638
-
U Spiekerkoetter M Lindner R Santer, et al. 2009 Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop J Inherit Metab Dis 32 488 497 1:STN:280:DC%2BD1MrkslSluw%3D%3D 10.1007/s10545-009-1125-9 19399638
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 488-497
-
-
Spiekerkoetter, U.1
Lindner, M.2
Santer, R.3
-
21
-
-
0026530558
-
Medium chain acyl-CoA dehydrogenase deficiency
-
1:STN:280:DyaK387lt12msA%3D%3D 10.1136/adc.67.1.142 1739332
-
EH Touma C Charpentier 1992 Medium chain acyl-CoA dehydrogenase deficiency Arch Dis Child 67 142 145 1:STN:280:DyaK387lt12msA%3D%3D 10.1136/adc.67.1.142 1739332
-
(1992)
Arch Dis Child
, vol.67
, pp. 142-145
-
-
Touma, E.H.1
Charpentier, C.2
-
22
-
-
0035175317
-
A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
-
DOI 10.1136/adc.84.1.58
-
EH Touma MS Rashed C Vianey-Saban 2001 A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency Arch Dis Child 84 58 60 1:STN:280:DC%2BD3M3itlOrug%3D%3D 10.1136/adc.84.1.58 11124787 (Pubitemid 32060139)
-
(2001)
Archives of Disease in Childhood
, vol.84
, Issue.1
, pp. 58-60
-
-
Touma, E.H.1
Rashed, M.S.2
Vianey-Saban, C.3
Sakr, A.4
Divry, P.5
Gregersen, N.6
Andresen, B.S.7
-
23
-
-
33748710253
-
Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants
-
DOI 10.1007/s10545-006-0376-y
-
S Vijay A Patterson S Olpin 2006 Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants J Inherit Metab Dis 29 627 630 1:CAS:528:DC%2BD28XpsFWlsLs%3D 10.1007/s10545-006-0376-y 16865412 (Pubitemid 44390424)
-
(2006)
Journal of Inherited Metabolic Disease
, vol.29
, Issue.5
, pp. 627-630
-
-
Vijay, S.1
Patterson, A.2
Olpin, S.3
Henderson, M.J.4
Clark, S.5
Day, C.6
Savill, G.7
Walter, J.H.8
-
24
-
-
38949113694
-
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate
-
1:CAS:528:DC%2BD1cXhs1enurc%3D
-
B Wilcken 2008a More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate N Engl J Med 358 647 1:CAS:528:DC%2BD1cXhs1enurc%3D
-
(2008)
N Engl J Med
, vol.358
, pp. 647
-
-
Wilcken, B.1
-
25
-
-
77952467336
-
Disorders of the carnitine cycle
-
B Wilcken 2008b Disorders of the carnitine cycle Ann Acad Med Singapore 37 Suppl 71 73
-
(2008)
Ann Acad Med Singapore
, vol.37
, Issue.SUPPL.
, pp. 71-73
-
-
Wilcken, B.1
-
26
-
-
0028285747
-
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency
-
1:STN:280:DyaK2c3ovVKksg%3D%3D 10.1136/adc.70.5.410 8017963
-
B Wilcken J Hammond M Silink 1994 Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency Arch Dis Child 70 410 412 1:STN:280:DyaK2c3ovVKksg%3D%3D 10.1136/adc.70.5.410 8017963
-
(1994)
Arch Dis Child
, vol.70
, pp. 410-412
-
-
Wilcken, B.1
Hammond, J.2
Silink, M.3
-
27
-
-
33845897373
-
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study
-
DOI 10.1016/S0140-6736(07)60029-4, PII S0140673607600294
-
B Wilcken M Haas P Joy, et al. 2007 Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study Lancet 369 37 42 1:CAS:528:DC%2BD2sXit12itw%3D%3D 10.1016/S0140-6736(07)60029-4 17208640 (Pubitemid 46027226)
-
(2007)
Lancet
, vol.369
, Issue.9555
, pp. 37-42
-
-
Wilcken, B.1
Haas, M.2
Joy, P.3
Wiley, V.4
Chaplin, M.5
Black, C.6
Fletcher, J.7
McGill, J.8
Boneh, A.9
-
28
-
-
67749135437
-
Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years
-
10.1542/peds.2008-0586 19620191
-
B Wilcken M Haas P Joy, et al. 2009 Expanded newborn screening: outcome in screened and unscreened patients at age 6 years Pediatrics 124 e241 e248 10.1542/peds.2008-0586 19620191
-
(2009)
Pediatrics
, vol.124
-
-
Wilcken, B.1
Haas, M.2
Joy, P.3
-
29
-
-
33745508914
-
Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency
-
DOI 10.1016/j.jemermed.2005.05.030, PII S0736467905004518
-
GW Wilhelm 2006 Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency J Emerg Med 30 291 294 10.1016/j.jemermed.2005.05.030 16677980 (Pubitemid 43963593)
-
(2006)
Journal of Emergency Medicine
, vol.30
, Issue.3
, pp. 291-294
-
-
Wilhelm, G.W.1
-
30
-
-
0028899006
-
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies
-
1:STN:280:DyaK2MzislChtw%3D%3D 10.1203/00006450-199505000-00021 7603790
-
R Ziadeh EP Hoffman DN Finegold, et al. 1995 Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies Pediatr Res 37 675 678 1:STN:280:DyaK2MzislChtw%3D%3D 10.1203/00006450-199505000-00021 7603790
-
(1995)
Pediatr Res
, vol.37
, pp. 675-678
-
-
Ziadeh, R.1
Hoffman, E.P.2
Finegold, D.N.3
|