-
1
-
-
8244255920
-
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
-
PID: 9158144, COI: 1:STN:280:DyaK2szgtFOltA%3D%3D
-
Andresen BS, Bross P, Udvari S et al (1997) The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet 6(5):695–707
-
(1997)
Hum Mol Genet
, vol.6
, Issue.5
, pp. 695-707
-
-
Andresen, B.S.1
Bross, P.2
Udvari, S.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
-
PID: 11349232, COI: 1:CAS:528:DC%2BD3MXltFeqsLk%3D
-
Andresen BS, Dobrowolski SF, O’Reilly L 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(6):1408–1418
-
(2001)
Am J Hum Genet
, vol.68
, Issue.6
, pp. 1408-1418
-
-
Andresen, B.S.1
Dobrowolski, S.F.2
O’Reilly, L.3
-
3
-
-
76349123600
-
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
-
PID: 20036593, COI: 1:CAS:528:DC%2BC3cXitVaqsbY%3D
-
Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA et al (2010) Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Mol Genet Metab 99(3):263–268
-
(2010)
Mol Genet Metab
, vol.99
, Issue.3
, pp. 263-268
-
-
Arnold, G.L.1
Saavedra-Matiz, C.A.2
Galvin-Parton, P.A.3
-
4
-
-
0017184389
-
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
-
PID: 942051, COI: 1:CAS:528:DyaE28XksVehtrY%3D
-
Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248–254
-
(1976)
Anal Biochem
, vol.72
, pp. 248-254
-
-
Bradford, M.M.1
-
5
-
-
0025355921
-
Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli
-
PID: 1970566, COI: 1:CAS:528:DyaK3cXkt1Sisrs%3D
-
Bross P, Engst S, Strauss AW, Kelly DP, Rasched I, Ghisla S (1990) Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli. J Biol Chem 265(13):7116–7119
-
(1990)
J Biol Chem
, vol.265
, Issue.13
, pp. 7116-7119
-
-
Bross, P.1
Engst, S.2
Strauss, A.W.3
Kelly, D.P.4
Rasched, I.5
Ghisla, S.6
-
6
-
-
0028902952
-
Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme
-
PID: 7730333, COI: 1:CAS:528:DyaK2MXltlWntrw%3D
-
Bross P, Jespersen C, Jensen TG et al (1995) Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. J Biol Chem 270(17):10284–10290
-
(1995)
J Biol Chem
, vol.270
, Issue.17
, pp. 10284-10290
-
-
Bross, P.1
Jespersen, C.2
Jensen, T.G.3
-
7
-
-
0035823526
-
Protein dynamics enhance electronic coupling in electron transfer complexes
-
PID: 11429403, COI: 1:CAS:528:DC%2BD3MXmslylu78%3D
-
Chohan KK, Jones M, Grossmann JG, Frerman FE, Scrutton NS, Sutcliffe MJ (2001) Protein dynamics enhance electronic coupling in electron transfer complexes. J Biol Chem 276(36):34142–34147
-
(2001)
J Biol Chem
, vol.276
, Issue.36
, pp. 34142-34147
-
-
Chohan, K.K.1
Jones, M.2
Grossmann, J.G.3
Frerman, F.E.4
Scrutton, N.S.5
Sutcliffe, M.J.6
-
8
-
-
84864527932
-
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency
-
PID: 22611163, COI: 1:CAS:528:DC%2BC38XhtVeiu7vE
-
Cornelius N, Frerman FE, Corydon TJ et al (2012) Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency. Hum Mol Genet 21(15):3435–3448
-
(2012)
Hum Mol Genet
, vol.21
, Issue.15
, pp. 3435-3448
-
-
Cornelius, N.1
Frerman, F.E.2
Corydon, T.J.3
-
9
-
-
77957269004
-
A novel mutation of the ACADM gene (c.145C > G) associated with the common c.985A > G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
-
PID: 20923556
-
Dessein AF, Fontaine M, Andresen BS et al (2010) A novel mutation of the ACADM gene (c.145C > G) associated with the common c.985A > G mutation on the other ACADM allele causes mild MCAD deficiency: a case report. Orphanet J Rare Dis 5:26
-
(2010)
Orphanet J Rare Dis
, vol.5
, pp. 26
-
-
Dessein, A.F.1
Fontaine, M.2
Andresen, B.S.3
-
10
-
-
0024021560
-
Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase
-
PID: 3053288, COI: 1:CAS:528:DyaL1cXksFSmsbY%3D
-
Frerman FE (1988) Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase. Biochem Soc Trans 16(3):416–418
-
(1988)
Biochem Soc Trans
, vol.16
, Issue.3
, pp. 416-418
-
-
Frerman, F.E.1
-
11
-
-
77950367893
-
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA dehydrogenase deficiency: combined analysis by structural, functional and pharmacological approaches
-
PID: 20060901, COI: 1:CAS:528:DC%2BC3cXjt1Gqtbg%3D
-
Gobin-Limballe S, McAndrew RP, Djouadi F, Kim JJ, Bastin J (2010) Compared effects of missense mutations in Very-Long-Chain Acyl-CoA dehydrogenase deficiency: combined analysis by structural, functional and pharmacological approaches. Biochim Biophys Acta 1802(5):478–484
-
(2010)
Biochim Biophys Acta
, vol.1802
, Issue.5
, pp. 478-484
-
-
Gobin-Limballe, S.1
McAndrew, R.P.2
Djouadi, F.3
Kim, J.J.4
Bastin, J.5
-
12
-
-
0842330592
-
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships
-
COI: 1:CAS:528:DC%2BD2cXhtlWgsL0%3D
-
Gregersen N, Bross P, Andresen BS (2004) Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships. Eur J Biochem FEBS 271(3):470–482
-
(2004)
Eur J Biochem FEBS
, vol.271
, Issue.3
, pp. 470-482
-
-
Gregersen, N.1
Bross, P.2
Andresen, B.S.3
-
13
-
-
56049114390
-
Mitochondrial fatty acid oxidation defects–remaining challenges
-
PID: 18836889, COI: 1:CAS:528:DC%2BD1cXhtlaqtL3I
-
Gregersen N, Andresen BS, Pedersen CB, Olsen RK, Corydon TJ, Bross P (2008) Mitochondrial fatty acid oxidation defects–remaining challenges. J Inherit Metab Dis 31(5):643–657
-
(2008)
J Inherit Metab Dis
, vol.31
, Issue.5
, pp. 643-657
-
-
Gregersen, N.1
Andresen, B.S.2
Pedersen, C.B.3
Olsen, R.K.4
Corydon, T.J.5
Bross, P.6
-
14
-
-
33646775349
-
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update
-
COI: 1:CAS:528:DC%2BD28XjsV2hu7c%3D
-
Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ (2006) The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med Off J Am Coll Med Genet 8(4):205–212
-
(2006)
Genet Med Off J Am Coll Med Genet
, vol.8
, Issue.4
, pp. 205-212
-
-
Grosse, S.D.1
Khoury, M.J.2
Greene, C.L.3
Crider, K.S.4
Pollitt, R.J.5
-
15
-
-
57049138178
-
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)
-
PID: 18775954, COI: 1:CAS:528:DC%2BD1cXhsVeqsr7P
-
Keyser B, Muhlhausen C, Dickmanns A et al (2008) Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Hum Mol Genet 17(24):3854–3863
-
(2008)
Hum Mol Genet
, vol.17
, Issue.24
, pp. 3854-3863
-
-
Keyser, B.1
Muhlhausen, C.2
Dickmanns, A.3
-
16
-
-
0029822206
-
Crystal structures of the wild type and the Glu376Gly/Thr255Glu mutant of human medium-chain acyl-CoA dehydrogenase: influence of the location of the catalytic base on substrate specificity
-
PID: 8823176, COI: 1:CAS:528:DyaK28XltlCqsrg%3D
-
Lee HJ, Wang M, Paschke R, Nandy A, Ghisla S, Kim JJ (1996) Crystal structures of the wild type and the Glu376Gly/Thr255Glu mutant of human medium-chain acyl-CoA dehydrogenase: influence of the location of the catalytic base on substrate specificity. Biochemistry 35(38):12412–12420
-
(1996)
Biochemistry
, vol.35
, Issue.38
, pp. 12412-12420
-
-
Lee, H.J.1
Wang, M.2
Paschke, R.3
Nandy, A.4
Ghisla, S.5
Kim, J.J.6
-
17
-
-
33749046345
-
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels
-
PID: 16950999
-
Liebig M, Schymik I, Mueller M et al (2006) Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics 118(3):1065–1069
-
(2006)
Pediatrics
, vol.118
, Issue.3
, pp. 1065-1069
-
-
Liebig, M.1
Schymik, I.2
Mueller, M.3
-
18
-
-
64649093848
-
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
-
PID: 19224950, COI: 1:CAS:528:DC%2BD1MXksVeitLo%3D
-
Maier EM, Gersting SW, Kemter KF et al (2009) Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. Hum Mol Genet 18(9):1612–1623
-
(2009)
Hum Mol Genet
, vol.18
, Issue.9
, pp. 1612-1623
-
-
Maier, E.M.1
Gersting, S.W.2
Kemter, K.F.3
-
19
-
-
0025183418
-
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency
-
PID: 2393404, COI: 1:CAS:528:DyaK3cXlsFSisrw%3D
-
Matsubara Y, Narisawa K, Miyabayashi S et al (1990) Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Biochem Biophys Res Commun 171(1):498–505
-
(1990)
Biochem Biophys Res Commun
, vol.171
, Issue.1
, pp. 498-505
-
-
Matsubara, Y.1
Narisawa, K.2
Miyabayashi, S.3
-
20
-
-
2542466783
-
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene
-
PID: 15171998, COI: 1:CAS:528:DC%2BD2cXksVemsbc%3D
-
McKinney JT, Longo N, Hahn SH et al (2004) Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Mol Genet Metab 82(2):112–120
-
(2004)
Mol Genet Metab
, vol.82
, Issue.2
, pp. 112-120
-
-
McKinney, J.T.1
Longo, N.2
Hahn, S.H.3
-
21
-
-
43049091281
-
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population
-
PID: 18241067, COI: 1:CAS:528:DC%2BD1cXkt1SksLw%3D
-
Nichols MJ, Saavedra-Matiz CA, Pass KA, Caggana M (2008) Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. Am J Med Genet A 146A(5):610–619
-
(2008)
Am J Med Genet A
, vol.146A
, Issue.5
, pp. 610-619
-
-
Nichols, M.J.1
Saavedra-Matiz, C.A.2
Pass, K.A.3
Caggana, M.4
-
22
-
-
7044251901
-
The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive
-
O’Reilly L, Bross P, Corydon TJ et al (2004) The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. Eur J Biochem FEBS 271(20):4053–4063
-
(2004)
Eur. J. Biochem FEBS
, vol.271
, Issue.20
, pp. 4053-4063
-
-
O’Reilly, L.1
Bross, P.2
Corydon, T.J.3
-
23
-
-
58149330142
-
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD
-
PID: 19064330, COI: 1:CAS:528:DC%2BD1MXntl2gsw%3D%3D
-
Purevsuren J, Kobayashi H, Hasegawa Y et al (2009) A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD. Mol Genet Metab 96(2):77–79
-
(2009)
Mol Genet Metab
, vol.96
, Issue.2
, pp. 77-79
-
-
Purevsuren, J.1
Kobayashi, H.2
Hasegawa, Y.3
-
24
-
-
33745098087
-
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective
-
PID: 16763904, COI: 1:CAS:528:DC%2BD28XlsV2lu74%3D
-
Rhead WJ (2006) Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. J Inherit Metab Dis 29(2–3):370–377
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.2-3
, pp. 370-377
-
-
Rhead, W.J.1
-
25
-
-
77957593706
-
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population
-
PID: 20532824, COI: 1:CAS:528:DC%2BC3cXht1Whsb%2FE
-
Schatz UA, Ensenauer R (2010) The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population. J Inherit Metab Dis 33(5):513–520
-
(2010)
J Inherit Metab Dis
, vol.33
, Issue.5
, pp. 513-520
-
-
Schatz, U.A.1
Ensenauer, R.2
-
26
-
-
84894619896
-
Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins
-
PID: 24498361
-
Schmiesing J, Schluter H, Ullrich K, Braulke T, Muhlhausen C (2014) Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins. PLoS One 9(2):e87715
-
(2014)
PLoS One
, vol.9
, Issue.2
, pp. e87715
-
-
Schmiesing, J.1
Schluter, H.2
Ullrich, K.3
Braulke, T.4
Muhlhausen, C.5
-
27
-
-
77953020257
-
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
-
PID: 20434380, COI: 1:CAS:528:DC%2BC3cXntVyrt70%3D
-
Smith EH, Thomas C, McHugh D et al (2010) Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab 100(3):241–250
-
(2010)
Mol Genet Metab
, vol.100
, Issue.3
, pp. 241-250
-
-
Smith, E.H.1
Thomas, C.2
McHugh, D.3
-
28
-
-
84866464946
-
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants
-
PID: 23028790, COI: 1:CAS:528:DC%2BC38XhsVWls7vF
-
Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U (2012) Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. PLoS One 7(9):e45110
-
(2012)
PLoS One
, vol.7
, Issue.9
, pp. e45110
-
-
Sturm, M.1
Herebian, D.2
Mueller, M.3
Laryea, M.D.4
Spiekerkoetter, U.5
-
29
-
-
68449092955
-
Acyl-CoA dehydrogenases: dynamic history of protein family evolution
-
PID: 19639238, COI: 1:CAS:528:DC%2BD1MXpsFelsr0%3D
-
Swigonova Z, Mohsen AW, Vockley J (2009) Acyl-CoA dehydrogenases: dynamic history of protein family evolution. J Mol Evol 69(2):176–193
-
(2009)
J Mol Evol
, vol.69
, Issue.2
, pp. 176-193
-
-
Swigonova, Z.1
Mohsen, A.W.2
Vockley, J.3
-
30
-
-
0031013581
-
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
-
PID: 9029639, COI: 1:CAS:528:DyaK2sXhtlWlur4%3D
-
Tanaka K, Gregersen N, Ribes A et al (1997) 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. Pediatr Res 41(2):201–209
-
(1997)
Pediatr Res
, vol.41
, Issue.2
, pp. 201-209
-
-
Tanaka, K.1
Gregersen, N.2
Ribes, A.3
-
31
-
-
68149136714
-
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns
-
PID: 19649258
-
ter Veld F, Mueller M, Kramer S et al (2009) A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. PLoS One 4(7):e6449
-
(2009)
PLoS One
, vol.4
, Issue.7
, pp. e6449
-
-
ter Veld, F.1
Mueller, M.2
Kramer, S.3
-
32
-
-
3543004682
-
Extensive domain motion and electron transfer in the human electron transferring flavoprotein.medium chain Acyl-CoA dehydrogenase complex
-
PID: 15159392, COI: 1:CAS:528:DC%2BD2cXmtVChurk%3D
-
Toogood HS, van Thiel A, Basran J, Sutcliffe MJ, Scrutton NS, Leys D (2004) Extensive domain motion and electron transfer in the human electron transferring flavoprotein.medium chain Acyl-CoA dehydrogenase complex. J Biol Chem 279(31):32904–32912
-
(2004)
J Biol Chem
, vol.279
, Issue.31
, pp. 32904-32912
-
-
Toogood, H.S.1
van Thiel, A.2
Basran, J.3
Sutcliffe, M.J.4
Scrutton, N.S.5
Leys, D.6
-
33
-
-
0025010623
-
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. an A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation
-
PID: 2394825, COI: 1:CAS:528:DyaK3cXlvV2iu7k%3D
-
Yokota I, Indo Y, Coates PM, Tanaka K (1990) Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. an A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. J Clin Invest 86(3):1000–1003
-
(1990)
J Clin Invest
, vol.86
, Issue.3
, pp. 1000-1003
-
-
Yokota, I.1
Indo, Y.2
Coates, P.M.3
Tanaka, K.4
-
34
-
-
0026322069
-
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
-
PID: 1684086, COI: 1:CAS:528:DyaK38XksVGqur0%3D
-
Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K (1991) Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 49(6):1280–1291
-
(1991)
Am J Hum Genet
, vol.49
, Issue.6
, pp. 1280-1291
-
-
Yokota, I.1
Coates, P.M.2
Hale, D.E.3
Rinaldo, P.4
Tanaka, K.5
-
35
-
-
77955662748
-
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
-
PID: 20580581, COI: 1:CAS:528:DC%2BC3cXhtVehsb%2FL
-
Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL (2010) Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab 101(1):33–39
-
(2010)
Mol Genet Metab
, vol.101
, Issue.1
, pp. 33-39
-
-
Yusupov, R.1
Finegold, D.N.2
Naylor, E.W.3
Sahai, I.4
Waisbren, S.5
Levy, H.L.6
-
36
-
-
0028899006
-
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies
-
PID: 7603790, COI: 1:STN:280:DyaK2MzislChtw%3D%3D
-
Ziadeh R, Hoffman EP, Finegold DN et al (1995) Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 37(5):675–678
-
(1995)
Pediatr Res
, vol.37
, Issue.5
, pp. 675-678
-
-
Ziadeh, R.1
Hoffman, E.P.2
Finegold, D.N.3
-
37
-
-
17844379219
-
Molecular and functional characterisation of mild MCAD deficiency
-
PID: 11409868, COI: 1:CAS:528:DC%2BD3MXjvVGhtbw%3D
-
Zschocke J, Schulze A, Lindner M et al (2001) Molecular and functional characterisation of mild MCAD deficiency. Hum Genet 108(5):404–408
-
(2001)
Hum Genet
, vol.108
, Issue.5
, pp. 404-408
-
-
Zschocke, J.1
Schulze, A.2
Lindner, M.3
|