在线轻松预约，无需出国即可与美国医生“面对面”视频交流，获取权威专业的第二诊疗意见和方案！登录好医友官网查询更多美国医生信息（咨询热线4008860922）
【执业认证】
美国内科医学委员会——临床和生化遗传学（Clinical and Biochemical Genetics）专科医师资格认证
【医生简介】
约瑟.E阿卜杜努尔(Jose E. Abdenur)博士，现任橙县儿童医院（CHOC Children’s）儿童代谢障碍疾病专科主任、首席专家；橙县儿童医院代谢实验室主任（该实验室是美国仅有的数家该类型的实验室之一）；以及加州大学尔湾分校（University of California, Irvine）儿科临床副教授；Cedars Sinai“加州大学洛杉矶分校校园医学遗传学训练计划” 医学和临床生化遗传学培训主任；同时，Abdenur博士也是加州卫生部新生儿筛查项目和遗传疾病筛查项目指导委员会委员员，和橙县儿童及家庭委员会（Children and Families Commission of Orange County）成员。
Abdenur博士临床擅长各类儿童代谢障碍疾病的诊疗，包括酸碱失衡、大脑代谢疾病、钙代谢障碍、DNA 修复缺陷障碍、葡萄糖代谢障碍、高乳酸盐血症、铁代谢障碍、脂质代谢障碍、吸收不良综合征、代谢综合征X、新陈代谢先天缺陷、线粒体疾病、磷代谢障碍、卟啉症、蛋白质内稳态缺失等。
临床关注：儿童脂肪酸氧化缺陷和有机酸血症的诊断、管理与治疗。
研究领域：新生儿脂肪酸氧化缺陷的饮食治疗。
【教育背景】
医学教育：毕业于阿根廷布宜诺斯艾利斯大学（Universidad de Buenos Aires, Argentina）获得医学博士学位；
实习/住院医培训：布宜诺斯艾利斯德尼诺斯综合医院（Hospital General de Ninos Dr. Pedro de Elizalde in Buenos Aires）进行儿科住院医师培训；
专科培训——生化遗传学（Biochemical Genetics）
纽约西奈山医学院，西奈山医院（The Mount Sinai Hospital）儿科和遗传学部门；
科罗拉多大学健康科学中心（University of Colorado Health Sciences Center）儿童医院和生化遗传学实验室,儿科部门。
专科培训——人类遗传学（Human Genetics）
纽约西奈山医学院，西奈山医院（The Mount Sinai Hospital）儿科和遗传学部门；
专科培训——儿科内分泌、代谢和营养学（Pediatric Endocrinology, Metabolism and Nutrition）
康奈尔大学医学院的北岸大学医院（North Shore University Hospital）儿科部门；
专科研究——小儿内分泌学（Pediatric Endocrinology）
布宜诺斯艾利斯德尼诺斯综合医院（Hospital General de Ninos Dr. Pedro de Elizalde Unidad de）小儿内分泌科，阿根廷联邦资金赞助
【讲座与演讲】
Acylcarnitines: Clinical Interpretation of the results（酰基肉碱临床结果解释）
Congenital Muscle dystrophies due to glycosylation defects（糖基化缺陷导致的先天性肌营养不良）
Fatty acid Oxidation defects, diagnosis and treatment（脂肪酸氧化缺陷,诊断和治疗）
Fatty acid oxidation defects（脂肪酸氧化缺陷）
Gamma Polymerase deficiency presenting as Alper’s syndrome（表现为高山征的γ聚合酶缺乏症）
Hematological Manifestations of Inborn Metabolic Diseases（先天代谢疾病的血液学表现）
Mitochondrial Diseases（线粒体疾病）
Newborn Screenig for Inborn Metabolic diseases in CA（加州新生儿先天代谢疾病筛查）
Newborn Screening by Tandem Mass Spectrometry（使用串联质谱技术的新生儿筛查）
Newborn Screening for Inborn Metabolic Diseases（新生儿先天代谢疾病筛查）
Newborn Screening for Metabolic Diseases-Exploring under the tip of the iceberg（少数正在探索中的新生儿代谢疾病筛查）
Organic Acid Analysis by GC-MS(经气相色谱-质谱联用仪的有机酸分析)
Organic Acidemias Diagnosis and management（有机酸血症的诊断和管理）
Organic Acidemias: diagnosis and treatment（有机酸血症的诊断和治疗）
Organic Acidemias（有机酸血症）
Plasma Aminoacids（等离子体氨基酸）
Signs and symptoms approach to Inborn Errors of Metabolism（先天性代谢缺陷的症状和体征）
The ABC of Urine Organic Acids（尿液有机酸的ABC）
When to think Metabolic: Clinical and Laboratory manifestations（诊断代谢病：临床和实验室表现）
When to think Metabolic: Clinical manifestations（诊断代谢病:临床表现）
【出版物摘选】
1. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE.
Mol Genet Metab. 2017 Jul 8. pii: S1096-7192(17)30362-1. doi: 10.1016/j.ymgme.2017.06.015.
2. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Van Hove JLK, Freeze HH, Abdenur JE.
Mitochondrion. 2017 May;34:84-90. doi: 10.1016/j.mito.2017.02.004. Epub 2017 Feb 12.
3. Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders.
Vockley J, Charrow J, Ganesh J, Eswara M, Diaz GA, McCracken E, Conway R, Enns GM, Starr J, Wang R, Abdenur JE, Sanchez-de-Toledo J, Marsden DL.
Mol Genet Metab. 2016 Nov;119(3):223-231. doi: 10.1016/j.ymgme.2016.08.008. Epub 2016 Aug 27.
4. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE.
Mol Genet Metab. 2016 Sep;119(1-2):91-9. doi: 10.1016/j.ymgme.2016.07.001. Epub 2016 Jul 4.
5. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.
Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.
6. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ.
Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Review.
7. New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
Stiles AR, Venturoni L, Mucci G, Elbalalesy N, Woontner M, Goodman S, Abdenur JE.
JIMD Rep. 2016;25:15-19. Epub 2015 Jul 5.
8. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE,Abdenur JE.
Mol Genet Metab. 2015 Aug;115(4):161-7. doi: 10.1016/j.ymgme.2015.05.008. Epub 2015 May 15.
9. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R.
J Inherit Metab Dis. 2015 Sep;38(5):905-14. doi: 10.1007/s10545-015-9836-6. Epub 2015 Apr 14.
10. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics.
Genet Med. 2014 Nov;16(11):e1.
更多出版物信息https://www.ncbi.nlm.nih.gov/pubmed/?term=Abdenur+JE%5BAuthor%5D
