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Results: 1-25/34
Authors:
Lagerstedt, SA
Hinrichs, DR
Batt, SM
Magera, MJ
Rinaldo, P
McConnell, JP
Citation: Sa. Lagerstedt et al., Quantitative determination of plasma C8-C26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders, MOL GEN MET, 73(1), 2001, pp. 38-45
Authors:
Matern, D
Shehata, BM
Shekhawat, P
Strauss, AW
Bennett, MJ
Rinaldo, P
Citation: D. Matern et al., Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, MOL GEN MET, 72(3), 2001, pp. 265-268
Authors:
Cox, KB
Hamm, DA
Millington, DS
Matern, D
Vockley, J
Rinaldo, P
Pinkert, CA
Rhead, WJ
Lindsey, JR
Wood, PA
Citation: Kb. Cox et al., Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse, HUM MOL GEN, 10(19), 2001, pp. 2069-2077
Authors:
Collins, MT
Chebli, C
Jones, J
Kushner, H
Consugar, M
Rinaldo, P
Wientroub, S
Bianco, P
Robey, PG
Citation: Mt. Collins et al., Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia, J BONE MIN, 16(5), 2001, pp. 806-813
Authors:
Bezman, L
Moser, AB
Raymond, GV
Rinaldo, P
Watkins, PA
Smith, KD
Kass, NE
Moser, HW
Citation: L. Bezman et al., Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening, ANN NEUROL, 49(4), 2001, pp. 512-517
Authors:
Rinaldo, P
Citation: P. Rinaldo, Fatty acid transport and mitochondrial oxidation disorders, SEM LIV DIS, 21(4), 2001, pp. 489-500
Authors:
Rinaldo, P
Studinski, AL
Matern, D
Citation: P. Rinaldo et al., Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation, PRENAT DIAG, 21(1), 2001, pp. 52-54
Authors:
Kao, PC
Machacek, DA
Magera, MJ
Lacey, JM
Rinaldo, P
Citation: Pc. Kao et al., Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry, ANN CLIN L, 31(2), 2001, pp. 199-204
Authors:
Wood, JC
Magera, MJ
Rinaldo, P
Seashore, MR
Strauss, AW
Friedman, A
Citation: Jc. Wood et al., Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card, PEDIATRICS, 108(1), 2001, pp. NIL_110-NIL_112
Authors:
Corydon, MJ
Vockley, J
Rinaldo, P
Rhead, WJ
Kjeldsen, M
Winter, V
Riggs, C
Babovic-Vuksanovic, D
Smeitink, J
De Jong, J
Levy, H
Sewell, AC
Roe, C
Matern, D
Dasouki, M
Gregersen, N
Citation: Mj. Corydon et al., Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency, PEDIAT RES, 49(1), 2001, pp. 18-23
Authors:
Ibdah, JA
Paul, H
Zhao, Y
Binford, S
Salleng, K
Cline, M
Matern, D
Bennett, MJ
Rinaldo, P
Strauss, AW
Citation: Ja. Ibdah et al., Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death, J CLIN INV, 107(11), 2001, pp. 1403-1409
Authors:
Bennett, MJ
Rinaldo, P
Citation: Mj. Bennett et P. Rinaldo, The metabolic autopsy comes of age, CLIN CHEM, 47(7), 2001, pp. 1145-1146
Authors:
Magera, MJ
Stoor, AL
Helgeson, JK
Matern, D
Rinaldo, P
Citation: Mj. Magera et al., Determination of homovanilic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry, CLIN CHIM A, 306(1-2), 2001, pp. 35-41
Authors:
Rinaldo, P
Matern, D
Citation: P. Rinaldo et D. Matern, Disorders of fatty acid transport and mitochondrial oxidation: Challenges and dilemmas of metabolic evaluation, GENET MED, 2(6), 2000, pp. 338-344
Authors:
Vockley, J
Rinaldo, P
Bennett, MJ
Matern, D
Vladutiu, GD
Citation: J. Vockley et al., Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways, MOL GEN MET, 71(1-2), 2000, pp. 10-18
Authors:
Fujii, K
Matsubara, Y
Akanuma, J
Takahashi, K
Kure, S
Suzuki, Y
Imaizumi, M
Iinuma, K
Sakatsume, O
Rinaldo, P
Narisawa, K
Citation: K. Fujii et al., Mutation Detection by TaqMan-allele specific amplification: Application tomolecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency, HUM MUTAT, 15(2), 2000, pp. 189-196
Authors:
Bennett, MJ
Rinaldo, P
Strauss, AW
Citation: Mj. Bennett et al., Inborn errors of mitochondrial fatty acid oxidation, CR R CL LAB, 37(1), 2000, pp. 1-44
Authors:
Gibson, KM
Burlingame, TG
Hogema, B
Jakobs, C
Schutgens, RBH
Millington, D
Roe, CR
Roe, DS
Sweetman, L
Steiner, RD
Linck, L
Pohowalla, P
Sacks, M
Kiss, D
Rinaldo, P
Vockley, J
Citation: Km. Gibson et al., 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error ofL-isoleucine metabolism, PEDIAT RES, 47(6), 2000, pp. 830-833
Authors:
Jones, PM
Quinn, R
Fennessey, PV
Tjoa, S
Goodman, SI
Fiore, S
Burlina, AB
Rinaldo, P
Boriack, RL
Bennett, MJ
Citation: Pm. Jones et al., Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation, CLIN CHEM, 46(2), 2000, pp. 149-155
Authors:
Magera, MJ
Helgeson, JK
Matern, D
Rinaldo, P
Citation: Mj. Magera et al., Methylmalonic acid measured in plasma and urine by stable-isotope dilutionand electrospray tandem mass spectrometry, CLIN CHEM, 46(11), 2000, pp. 1804-1810
Authors:
Yoon, HR
Paik, MJ
Shin, HS
Yu, C
Rinaldo, P
Citation: Hr. Yoon et al., Analysis of plasma free fatty acid cyanomethyl derivatives by GC-NPD for the diagnosis of mitochondrial fatty acid oxidation disorders, CHROMATOGR, 52(3-4), 2000, pp. 211-216
Authors:
Raymond, K
Bale, AE
Barnes, CA
Rinaldo, P
Citation: K. Raymond et al., Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman, GENET MED, 1(6), 1999, pp. 293-294
Authors:
Matsubara, Y
Fujii, K
Rinaldo, P
Narisawa, K
Citation: Y. Matsubara et al., A fluorogenic allele-specific amplification method for DNA-based screeningfor inherited metabolic disorders, ACT PAEDIAT, 88, 1999, pp. 65-68
Authors:
Hostetler, MA
Arnold, GL
Mooney, R
Bennett, MJ
Rinaldo, P
Roe, CR
Citation: Ma. Hostetler et al., Hypoketotic hypoglycemic coma in a 21-month-old child, ANN EMERG M, 34(3), 1999, pp. 394-398
Authors:
Rinaldo, P
Citation: P. Rinaldo, Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome, DIG DIS SCI, 44(8), 1999, pp. 97S-102S