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N

Nenad Blau

University Children's Hospital

75H指数
703论文数
2.3W被引数
收录论文 195
发表时间
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A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders当代遗传性溶酶体疾病的病理解剖分类学
errJournal of Inherited Metabolic Disease
IF3.8
err2026-09-06
err0
PREAI
errEamon P. McCarron; Nenad Blau; Emily R. Eden; Frances M. Platt; Johannes M. Aerts; Simon A. Jones; Carlos R. Ferreira; Karolina M. Stepien
err分享
err收藏
Clinical and biochemical footprints of inherited disorders of autophagy自噬障碍的遗传性疾病的临床和生化特征
errMolecular Genetics and Metabolism
IF3.5
err2026-08-26
err0
errOAAI
errHeinz Jungbluth; Hormos S. Dafsari; Carlos R. Ferreira; Nenad Blau
err分享
err收藏
Genotype-Phenotype Relationships in Phenylalanine Hydroxylase Deficiency: Functional Annotation-Enhanced Analysis of 23,427 Individuals苯丙氨酸羟化酶缺乏症的基因型-表型关系：23,427例个体的功能注释增强分析
errGenetics in Medicine
IF6.2
err2026-07-08
err0
errOAAI
errNenad Blau; Nastassja Himmelreich
err分享
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Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness整合功能后果注释与PAH等位基因表型值可优化四氢生物蝶呤反应性预测
errJournal of Inherited Metabolic Disease
IF3.8
err2026-06-21
err0
errOAAI
errNastassja Himmelreich; Nenad Blau
err分享
err收藏
Clinical and biochemical footprints of inherited cofactor disorders遗传性辅因子紊乱的临床和生化特征
errMolecular Genetics and Metabolism
IF3.5
err2026-05-18
err0
errOAAI
errIvano Di Meo; Carlos R. Ferreira; Thomas Opladen; Günter Schwarz; Valeria Tiranti; Clara van Karnebeek; Eva van Walree; Nenad Blau
err分享
err收藏
Sepiapterin: From sapropterin to next-generation therapy左旋二氢生物蝶呤：从沙普特林到下一代疗法
errMolecular Genetics and Metabolism
IF3.5
err2026-05-10
err0
errOAAI
errNenad Blau
err分享
err收藏
Clinical and biochemical footprints of primary mitochondrial disorders: Proposed Nosology原发性线粒体疾病的临床与生化特征：拟定的分类学
errMolecular Genetics and Metabolism
IF3.5
err2025-12-11
err0
errOAAI
errMartina Messina; Rebecca Ganetzky; Carlos R. Ferreira; Nenad Blau; Shamima Rahman
err分享
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A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification一种关于细胞外基质（ECM）遗传性障碍的拟议分类法：来自IEMbase和二元分类的见解
errMolecular Genetics and Metabolism
IF3.5
err2025-11-13
err0
errOAAI
errCecilia Giunta; Giulio Marcionelli; Carlos R. Ferreira; Nenad Blau; Marianne Rohrbach
err分享
err收藏
Digital twins for children with rare diseases: an exploration of the legal and ethical issues儿童罕见病数字孪生：法律与伦理问题探讨
errEthics and Information Technology
IF4
err2025-08-29
err0
errOAAI
errJulian W. März; Matthias Baumgartner; Nenad Blau; Nikola Biller-Andorno
err分享
err收藏
European guidelines on diagnosis and treatment of phenylketonuria: First revision欧洲苯丙酮尿症诊断与治疗指南：首次修订
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-06-01
err0
PREAI
errvan Wegberg, A. M. J.; MacDonald, A.; Ahring, K.; Belanger-Quintana, A.; Beblo, S.; Blau, N.; Bosch, A. M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J.
err分享
err收藏
Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-05-01
err0
errOAAI
errPeacock, Dakota J. S. J.; Ferreira, Carlos R.; Horvath, Gabriella; Hoffmann, Georg F.; Blau, Nenad; Ebrahimi-Fakhari, Darius
err分享
err收藏
Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-01-01
err0
errOAAI
errGreene, Carol L.; Saenz-Ayala, Sofia; Strovel, Erin T.; Rossignol, Francis; Ferreira, Carlos R.; Blau, Nenad
err分享
err收藏
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-07-01
err0
errOAAI
errHimmelreich, Nastassja; Ramon-Maiques, Santiago; Navarrete, Rosa; Castejon-Fernandez, Natalia; Garbade, Sven F.; Martinez, Aurora; Desviat, Lourdes R.; Perez, Belen; Blau, Nenad
err分享
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Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err16
errOAAI
errNg, Bobby G.; Freeze, Hudson H.; Himmelreich, Nastassja; Blau, Nenad; Ferreira, Carlos R.
err分享
err收藏
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients高苯丙氨酸血症是否会导致脑葡萄糖代谢低下？接受治疗的成人苯丙酮尿症患者的脑脊髓液发现
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err2
errOAAI
errTrefz, Friedrich; Frauendienst-Egger, Georg; Dienel, Gerald; Cannet, Claire; Schmidt-Mader, Brigitte; Haas, Dorothea; Blau, Nenad; Himmelreich, Nastassja; Spraul, Manfred; Freisinger, Peter; Dobrowolski, Steven; Berg, Daniela; Pilotto, Andrea
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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err5
PREAI
errLatzer, Itay Tokatly; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L.; Elsea, Sarah H.; Garcia-Cazorla, Angels; Gibson, K. Michael; Gropman, Andrea L.; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Julia-Palacios, Natalia; Knerr, Ina; Lee, Henry H. C.; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppeboen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A.; Roullet, Jean-Baptiste; Pearl, Phillip L.
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Estimating the prevalence of ultra-rare inherited metabolic disorders: Aromatic amino acid decarboxylase (AADC) deficiency
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-03-01
err1
PREAI
errBlau, Nenad
err分享
err收藏
Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-12-01
err2
errOAAI
errDunlea, Eoghan; Crushell, Ellen; Cotter, Melanie; Blau, Nenad; Ferreira, Carlos R.
err分享
err收藏
Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-11-01
err2
errOAAI
errRossi, Alessandro; Basilicata, Simona; Borrelli, Melissa; Ferreira, Carlos R.; Blau, Nenad; Santamaria, Francesca
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err收藏
Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-11-01
err5
errOAAI
errLatzer, Itay Tokatly; Blau, Nenad; Ferreira, Carlos R.; Pearl, Phillip L.
err分享
err收藏

研究方向

暂无研究方向
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