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- [1] Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines[J]. Nature Communications, 12Oya Kuseyri Hübschmann论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineGabriella Horvath论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineElisenda Cortès-Saladelafont论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineYılmaz Yıldız论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineMario Mastrangelo论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineRoser Pons论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineJennifer Friedman论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineSaadet Mercimek-Andrews论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineSuet-Na Wong论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineToni S. Pearson论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineDimitrios I. Zafeiriou论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineJan Kulhánek论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineManju A. Kurian论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineEduardo López-Laso论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineMari Oppebøen论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineSebile Kılavuz论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineTessa Wassenberg论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineHelly Goez论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineSabine Scholl-Bürgi论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineFrancesco Porta论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineTomáš Honzík论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineRené Santer论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineAlberto Burlina论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineH. Serap Sivri论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineVincenzo Leuzzi论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineGeorg F. Hoffmann论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineKathrin Jeltsch论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineDaniel Hübschmann论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineSven F. Garbade论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineAngeles García-Cazorla论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of MedicineThomas Opladen论文数: 0 引用数: 0 h-index: 0机构: University Children’s Hospital Heidelberg,Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine
- [2] Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines[J]. RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY, 2015, 209 : 124 - 132Szymanska, Krystyna论文数: 0 引用数: 0 h-index: 0机构: Polish Acad Sci, Mossakowski Med Res Ctr, Dept Clin & Expt Neuropathol, PL-02106 Warsaw, Poland Med Univ Warsaw, Dept Child Psychiat, PL-00576 Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Clin & Expt Neuropathol, PL-02106 Warsaw, PolandKusmierska, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mother & Child, Screening Dept, PL-01211 Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Clin & Expt Neuropathol, PL-02106 Warsaw, PolandNowacka, Maria论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mother & Child, Dept Pediat, PL-01211 Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Clin & Expt Neuropathol, PL-02106 Warsaw, PolandSykut-Cegielska, Jolanta论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mother & Child, Screening Dept, PL-01211 Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Clin & Expt Neuropathol, PL-02106 Warsaw, PolandDernkowe, Urszula论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Lab Diagnost & Clin Immunol Dev Age, PL-00576 Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Clin & Expt Neuropathol, PL-02106 Warsaw, Poland
- [3] Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines[J]. NATURE COMMUNICATIONS, 2021, 12 (01)Huebschmann, Oya Kuseyri论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, Germany Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyHorvath, Gabriella论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, BC Childrens Hosp, Dept Pediat, Div Biochem Genet, Vancouver, BC, Canada Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyCortes-Saladelafont, Elisenda论文数: 0 引用数: 0 h-index: 0机构: Inst Recerca St Joan de Deu, Dept Neurol, Inborn Errors Metab Unit, Barcelona, Spain CIBERER ISCIII, Barcelona, Spain Hosp Badalona Germans Trias & Pujol, Dept Pediat, Inborn Errors Metab & Child Neurol Unit, Badalona, Spain Univ Autonoma Barcelona, Fac Med, Barcelona, Spain Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyYildiz, Yilmaz论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat, Sect Metab, Ankara, Turkey Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyMastrangelo, Mario论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Human Neurosci, Unit Child Neurol & Psychiat, Rome, Italy Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyPons, Roser论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Aghia Sofia Hosp, Dept Pediat 1, Athens, Greece Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyFriedman, Jennifer论文数: 0 引用数: 0 h-index: 0机构: UCSD Dept Neurosci, San Diego, CA USA UCSD Dept Pediat, San Diego, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, Div Neurol, San Diego, CA USA Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyMercimek-Andrews, Saadet论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, 555 Univ Ave, Toronto, ON, Canada Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyWong, Suet-Na论文数: 0 引用数: 0 h-index: 0机构: Hong Kong Children Hosp, Dept Pediat & Adolescent Med, Hong Kong, Peoples R China Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyPearson, Toni S.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyZafeiriou, Dimitrios, I论文数: 0 引用数: 0 h-index: 0机构: Aristotle Univ Thessaloniki, Dept Pediat 1, Egnatia St 106, Thessaloniki, Greece Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyKulhanek, Jan论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Pediat & Inherited Metab Disorders, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Dev Neurosci, London, England Great Ormond St Hosp Sick Children, Dept Neurol, London, England Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyLopez-Laso, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Reina Sofia, Dept Pediat, Pediat Neurol Unit, IMIBIC, Cordoba, Spain CIBERER, Cordoba, Spain Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyOppeboen, Mari论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Rikshosp, Childreng Dept, Div Child Neurol, Pb 4956 Nydalen, Oslo, Norway Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyKilavuz, Sebile论文数: 0 引用数: 0 h-index: 0机构: Cukurova Univ, Fac Med, Dept Pediat, Div Pediat Metab & Nutr, Adana, Turkey Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyWassenberg, Tessa论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Neurol, Nijmegen, Netherlands UZ Brussel VUB, Pediat Neurol Unit, Dept Pediat, Brussels, Belgium Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyGoez, Helly论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Glenrose Rehabil Hosp, Dept Pediat, Edmonton, AB, Canada Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyScholl-Buergi, Sabine论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Clin Pediat 1, Innsbruck, Austria Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyPorta, Francesco论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci, Dept Pediat, Turin, Italy Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyHonzik, Tomas论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Pediat & Inherited Metab Disorders, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanySanter, Rene论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Childrens Hosp, Hamburg, Germany Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyBurlina, Alberto论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Padova, Dipartimento Salute Donna & Bambino, UOC Malattie Metab Ereditarie, Campus Biomed Pietro dAbano, Padua, Italy Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanySivri, H. Serap论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat, Sect Metab, Ankara, Turkey Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyLeuzzi, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Human Neurosci, Unit Child Neurol & Psychiat, Rome, Italy Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyHoffmann, Georg F.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, Germany Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyJeltsch, Kathrin论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, Germany Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyHuebschmann, Daniel论文数: 0 引用数: 0 h-index: 0机构: German Canc Consortium DKTK, Heidelberg, Germany DKFZ, Natl Ctr Tumor Dis, Mol Diagnost Program, Computat Oncol, Heidelberg, Germany Heidelberg Inst Stem Cell Technol & Expt Med HI S, Heidelberg, Germany Heidelberg Univ Hosp, Dept Pediat Immunol Hematol & Oncol, Heidelberg, Germany Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyGarbade, Sven F.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Heidelberg, Dietmar Hopp Metab Ctr, Heidelberg, Germany Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyGarcia-Cazorla, Angeles论文数: 0 引用数: 0 h-index: 0机构: Inst Recerca St Joan de Deu, Dept Neurol, Inborn Errors Metab Unit, Barcelona, Spain CIBERER ISCIII, Barcelona, Spain Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, GermanyOpladen, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, Germany Univ Childrens Hosp Heidelberg, Div Child Neurol & Metab Disorders, Heidelberg, Germany
- [4] Diagnosis of Biogenic Amines Synthesis Defects[J]. JOURNAL OF PEDIATRIC NEUROLOGY, 2015, 13 (04) : 186 - 197Cortes-Saladelafont, Elisenda论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, Spain Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, SpainMolero-Luis, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Dept Genet & Biochem, Barcelona 08950, Spain Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, SpainOrmazabal, Aida论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Dept Genet & Biochem, Barcelona 08950, Spain Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, SpainTristan-Noguero, Alba论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, Spain Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, SpainSierra, Cristina论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Dept Genet & Biochem, Barcelona 08950, Spain Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, SpainArmstrong, Judith论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Dept Genet & Biochem, Barcelona 08950, Spain Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, SpainArtuch, Rafael论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Dept Genet & Biochem, Barcelona 08950, Spain Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, SpainGarcia-Cazorla, Angels论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, Spain Hosp San Juan Dios, Dept Neurol, Esplugues Llobregat,Passeig Sant Joan Deu 2, Barcelona 08950, Spain
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