학술논문
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'학술논문'
에서 검색결과 17건 | 목록
1~20
Academic Journal
Scientific Reports. 15(1)
Academic Journal
Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-5 (2022)
Academic Journal
Stolwijk, Nina N.; Häberle, Johannes; Huidekoper, Hidde H.; Wagenmakers, Margreet A. E. M.; Hollak, Carla E. M.; Bosch, Annet M.; Möslinger, Dorothea; Nassogne, Marie-Cecile; Vanlander, Arnaud; Witters, Peter; Jesina, Pavel; Zeman, Jiri; Lund, Allan M.; Feillet, François; Gramer, Gwendolyn; Grünert, Sarah C.; Kölker, Stefan; Opladen, Thomas; Thimm, Eva; Ziagaki, Athanasia; Skouma, Anastasia; Szakszon, Katalin; Monavari, Ahmad Ardeshir; Procopio, Elena; Rossi, Alessandro; Rubert, Laura; Taurisano, Roberta; Auzenbaha, Madara; Janssen, Mirian; Tangeraas, Trine; Giżewska, Maria; Ferreira, Ana Cristina; Groselj, Urh; Bellusci, Marcello; Martín-Hernández, Elena; de Las Heras, Javier; Felipe, Ana; Murphy, Elaine
J Inherit Metab Dis
the E-IMD and MetabERN Working Group on the Real-World Use of products for UCD Management 2025, ' Mapping challenges in the accessibility of treatment products for urea cycle disorders : A survey of European healthcare professionals ', Journal of Inherited Metabolic Disease, vol. 48, no. 1, e12815 . https://doi.org/10.1002/jimd.12815
the E-IMD and MetabERN Working Group on the Real-World Use of products for UCD Management 2025, ' Mapping challenges in the accessibility of treatment products for urea cycle disorders : A survey of European healthcare professionals ', Journal of Inherited Metabolic Disease, vol. 48, no. 1, e12815 . https://doi.org/10.1002/jimd.12815
Academic Journal
Emulina, D.E.; Abola, I.; Brinkmane, A.; Isakovs, A.; Moisejevs, G.; Gailite, L.; Auzenbaha, M.; Skadins, I.
In: Diagnostics . (Diagnostics, January 2024, 14(2))
Academic Journal
Lee A; Norwegian National Advisory Unit on Paediatric Palliative Care, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.; Bliksrud YT; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Onali M; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Neugebauer J; Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Eyskens F; Center of Inherited Metabolic Diseases, Antwerp University Hospital, Edegem, Belgium.; Haas D; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.; Mossler K; The Jenny Mossler Rockström Foundation for People With Smith-Lemli-Opitz Syndrome, Stockholm, Sweden.; Enekwe A; SLO Deutschland e.V., Doebeln, Germany.; Kiec-Wilk B; Department of Pathophysiology, Jagiellonian University Medical College, Krakow, Poland, and Metabolic Disease Clinic, St John Paul II Specialist Hospital, Kraków, Poland.; Diep LM; Oslo Centre for Biostatistics and Epidemiology, Research Support Services, Oslo University Hospital, Oslo, Norway.; Bellettato CM; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Zernikow B; Department of Children's Pain Therapy and Paediatric Palliative Care, Faculty of Health, School of Medicine, Witten/Herdecke University, Witten, Germany.; Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, and Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Tangeraas T; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Academic Journal
In: Neurology International . (Neurology International, December 2023, 15(4):1489-1496)
Academic Journal
Abola, I.; Emulina, D.E.; Skadins, I.; Gailite, L.; Auzenbaha, M.; Brinkmane, A.; Gudra, D.; Ustinova, M.; Fridmanis, D.; Lauga-Tunina, U.
In: Microorganisms . (Microorganisms, June 2023, 11(6))
Academic Journal
In: Children . (Children, June 2023, 10(6))
Academic Journal
In: Case Reports in Medicine . (Case Reports in Medicine, 2023, 2023)
Academic Journal
In: Diagnostics . (Diagnostics, November 2022, 12(11))
Academic Journal
In: Acta Stomatologica Croatica . (Acta Stomatologica Croatica, June 2022, 56(2):109-119)
Academic Journal
Gailite, L.; Sterna, O.; Konika, M.; Isakovs, A.; Isakova, J.; Auzenbaha, M.; Micule, I.; Setlere, S.; Diriks, M.
In: International Journal of Neonatal Screening . (International Journal of Neonatal Screening, March 2022, 8(1))
Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6)
Academic Journal
In: American Journal of Case Reports . (American Journal of Case Reports, 2022, 23(1))
Academic Journal
Abola, I.; Intlere, N.A.; Brinkmane, A.; Moisejevs, G.; Gailite, L.; Auzenbaha, M.; Laktina, S.; Zarina, A.; Vasilevska, L.; Skadins, I.
In: Molecular Genetics and Metabolism Reports . (Molecular Genetics and Metabolism Reports, December 2024, 41)
Academic Journal
Vasiļevska L; Clinic of Medical Genetics and Prenatal Diagnostics Children's Clinical University Hospital Riga Latvia.; Puķīte I; Department of Pediatric Gastroenterology Children's Clinical University Hospital Riga Latvia.; Riga Stradiņš University Riga Latvia.; Auzenbaha M; Clinic of Medical Genetics and Prenatal Diagnostics Children's Clinical University Hospital Riga Latvia.; Riga Stradiņš University Riga Latvia.; Rots D; Riga Stradiņš University Riga Latvia.; Genetics Laboratory Children's Clinical University Hospital Riga Latvia.; Grīnfelde I; Clinic of Medical Genetics and Prenatal Diagnostics Children's Clinical University Hospital Riga Latvia.; Riga Stradiņš University Riga Latvia.; Lazdāne A; Genetics Laboratory Children's Clinical University Hospital Riga Latvia.; Schulz-Jürgensen S; Department of Pediatrics University Medical Center Eppendorf Hamburg Germany.
Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
Academic Journal
Bokayeva K; Poznan University of Medical Sciences, Department of Pediatric Gastroenterology and Metabolic Diseases, Szpitalna Str. 27/33, 60-572 Poznań, Poland.; Poznan University of Medical Sciences, Doctoral School, Bukowska Str. 70, 60-812 Poznań, Poland.; Jamka M; Poznan University of Medical Sciences, Department of Pediatric Gastroenterology and Metabolic Diseases, Szpitalna Str. 27/33, 60-572 Poznań, Poland.; Kałużny Ł; Poznan University of Medical Sciences, Department of Pediatric Gastroenterology and Metabolic Diseases, Szpitalna Str. 27/33, 60-572 Poznań, Poland.; Duś-Żuchowska M; Poznan University of Medical Sciences, Department of Pediatric Gastroenterology and Metabolic Diseases, Szpitalna Str. 27/33, 60-572 Poznań, Poland.; Wichłacz-Trojanowska N; Poznan University of Medical Sciences, Department of Pediatric Gastroenterology and Metabolic Diseases, Szpitalna Str. 27/33, 60-572 Poznań, Poland.; Mozrzymas R; Research and Development Center, Department of Pediatrics, Regional Specialist Hospital, Kamienskiego Str. 73a, 51-124 Wrocław, Poland.; Chrobot A; Metabolic Outpatient Clinic, Voievodship Children Hospital, Chodkiewicza Str. 44, 85-667 Bydgoszcz, Poland.; Walkowiak D; Poznan University of Medical Sciences, Department of Organization and Management in Health Care, Marii Magdaleny Str. 14, 61-786 Poznań, Poland.; Ļubina O; Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Vienības Gatve Str. 45, 1004 Riga, Latvia.; Rabkevich I; Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Vienības Gatve Str. 45, 1004 Riga, Latvia.; Kurek S; Poznan University of Medical Sciences, Department of Pediatric Gastroenterology and Metabolic Diseases, Szpitalna Str. 27/33, 60-572 Poznań, Poland.; Miśkiewicz-Chotnicka A; Poznan University of Medical Sciences, Department of Pediatric Gastroenterology and Metabolic Diseases, Szpitalna Str. 27/33, 60-572 Poznań, Poland.; Sultanova G; School of Dentistry, Pharmacy, Nursing, Public Health and Preventive Medicine, West Kazakhstan Marat Ospanov Medical University, Maresyev Str. 68, Aktobe 030019, Kazakhstan.; Herzig KH; Poznan University of Medical Sciences, Department of Pediatric Gastroenterology and Metabolic Diseases, Szpitalna Str. 27/33, 60-572 Poznań, Poland.; Research Unit of Biomedicine and Internal Medicine, Faculty of Medicine, University of Oulu, Aapistie Str. 5, 90220 Oulu, Finland.; Biocenter Oulu, University of Oulu, Aapistie Str. 5, 90220 Oulu, Finland.; Medical Research Center, Oulu University Hospital, Aapistie Str. 5, 90220 Oulu, Finland.; Auzenbaha M; Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Vienības Gatve Str. 45, 1004 Riga, Latvia.; Walkowiak J; Poznan University of Medical Sciences, Department of Pediatric Gastroenterology and Metabolic Diseases, Szpitalna Str. 27/33, 60-572 Poznań, Poland.
Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN: 2072-6643 (Electronic) Linking ISSN: 20726643 NLM ISO Abbreviation: Nutrients Subsets: MEDLINE
Academic Journal
Vasilevska L; Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Riga, Latvia.; Auzenbaha M; Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Riga, Latvia.; Department of Biology and Microbiology, Riga Stradiņš University, Riga, Latvia.; Grinfelde I; Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Riga, Latvia.; Department of Biology and Microbiology, Riga Stradiņš University, Riga, Latvia.; Skangale A; Riga Outpatient Department, Centre of Tuberculosis and Lung Diseases, Riga East University Hospital, Riga, Latvia.
Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE
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