Sortiert nach
Journal of inherited metabolic disease, 2018-03, Vol.41 (2), p.209-219
2018
Link zum Volltext
American journal of human genetics, 2012-06, Vol.90 (6), p.1079-1087
2012
Link zum Volltext
Clinical chemistry and laboratory medicine, 2017-03, Vol.55 (3), p.403
2017
Link zum Volltext
Nutrients, 2020-07, Vol.12 (7), p.2078
2020
Link zum Volltext
Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.677-694
- Kölker, Stefan
- Christensen, Ernst
- Leonard, James V.
- Greenberg, Cheryl R.
- Boneh, Avihu
- Burlina, Alberto B.
- Burlina, Alessandro P.
- Dixon, Marjorie
- Duran, Marinus
- García Cazorla, Angels
- Goodman, Stephen I.
- Koeller, David M.
- Kyllerman, Mårten
- Mühlhausen, Chris
- Müller, Edith
- Okun, Jürgen G.
- Wilcken, Bridget
- Hoffmann, Georg F.
- Burgard, Peter
2011
Link zum Volltext
Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1059-1074
- Kölker, Stefan
- Valayannopoulos, Vassili
- Burlina, Alberto B.
- Sykut-Cegielska, Jolanta
- Wijburg, Frits A.
- Teles, Elisa Leão
- Zeman, Jiri
- Dionisi-Vici, Carlo
- Barić, Ivo
- Karall, Daniela
- Arnoux, Jean-Baptiste
- Avram, Paula
- Baumgartner, Matthias R.
- Blasco-Alonso, Javier
- Boy, S. P. Nikolas
- Rasmussen, Marlene Bøgehus
- Burgard, Peter
- Chabrol, Brigitte
- Chakrapani, Anupam
- Chapman, Kimberly
- Cortès i Saladelafont, Elisenda
- Couce, Maria L.
- de Meirleir, Linda
- Dobbelaere, Dries
- Furlan, Francesca
- Gleich, Florian
- González, Maria Julieta
- Gradowska, Wanda
- Grünewald, Stephanie
- Honzik, Tomas
- Hörster, Friederike
- Ioannou, Hariklea
- Jalan, Anil
- Häberle, Johannes
- Haege, Gisela
- Langereis, Eveline
- de Lonlay, Pascale
- Martinelli, Diego
- Matsumoto, Shirou
- Mühlhausen, Chris
- Murphy, Elaine
- de Baulny, Hélène Ogier
- Ortez, Carlos
- Pedrón, Consuelo C.
- Pintos-Morell, Guillem
- Pena-Quintana, Luis
- Ramadža, Danijela Petković
- Rodrigues, Esmeralda
- Scholl-Bürgi, Sabine
- Sokal, Etienne
- Summar, Marshall L.
- Thompson, Nicholas
- Vara, Roshni
- Pinera, Inmaculada Vives
- Walter, John H.
- Williams, Monique
- Lund, Allan M.
- Garcia Cazorla, Angeles
2015
Link zum Volltext
Orphanet journal of rare diseases, 2023-09, Vol.18 (1), p.1-12, Article 300
2023
Link zum Volltext
Biomolecules (Basel, Switzerland), 2021-06, Vol.11 (7), p.951
2021
Link zum Volltext
International journal of neonatal screening, 2019-06, Vol.5 (2), p.24-24
2019
Link zum Volltext
JIMD reports, 2024-03, Vol.65 (2), p.56-62
2024
Link zum Volltext
Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100929-100929, Article 100929
2022
Link zum Volltext
International journal of neonatal screening, 2023-12, Vol.10 (1), p.3
2023
Link zum Volltext
Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353
- Heringer, Jana
- Valayannopoulos, Vassili
- Lund, Allan M.
- Wijburg, Frits A.
- Freisinger, Peter
- Barić, Ivo
- Baumgartner, Matthias R.
- Burgard, Peter
- Burlina, Alberto B.
- Chapman, Kimberly A.
- i Saladelafont, Elisenda Cortès
- Karall, Daniela
- Mühlhausen, Chris
- Riches, Victoria
- Schiff, Manuel
- Sykut-Cegielska, Jolanta
- Walter, John H.
- Zeman, Jiri
- Chabrol, Brigitte
- Kölker, Stefan
2016
Link zum Volltext
International journal of neonatal screening, 2023-06, Vol.9 (2), p.31
2023
Link zum Volltext
Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-331, Article 331
- Derks, Britt
- Demirbas, Didem
- Arantes, Rodrigo R.
- Banford, Samantha
- Burlina, Alberto B.
- Cabrera, Analía
- Chiesa, Ana
- Couce, M. Luz
- Dionisi-Vici, Carlo
- Gautschi, Matthias
- Grünewald, Stephanie
- Morava, Eva
- Möslinger, Dorothea
- Scholl-Bürgi, Sabine
- Skouma, Anastasia
- Stepien, Karolina M.
- Timson, David J.
- Berry, Gerard T.
- Rubio-Gozalbo, M. Estela
2022
Link zum Volltext
Journal of clinical medicine, 2023-03, Vol.12 (6), p.2365
2023
Link zum Volltext
Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100878-100878, Article 100878
2022
Link zum Volltext
JIMD reports, 2022-09, Vol.63 (5), p.414-419
2022
Link zum Volltext
Clinical chemistry and laboratory medicine, 2019-11, Vol.57 (12), p.1863
2019
Link zum Volltext
American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1917-1922
2023
Link zum Volltext
Critical reviews in clinical laboratory sciences, 2022-05, Vol.59 (4), p.257-277
2022
Link zum Volltext
The Journal of pediatrics, 2002-03, Vol.140 (3), p.321-329
2002
Link zum Volltext
American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.296-312
- Crow, Yanick J.
- Chase, Diana S.
- Lowenstein Schmidt, Johanna
- Szynkiewicz, Marcin
- Forte, Gabriella M.A.
- Gornall, Hannah L.
- Oojageer, Anthony
- Anderson, Beverley
- Helman, Guy
- Abdel-Salam, Ghada M.
- Aeby, Alec
- Agosta, Guillermo
- Albin, Catherine
- Allon-Shalev, Stavit
- Arellano, Montse
- Ariaudo, Giada
- Aswani, Vijay
- Babul-Hirji, Riyana
- Bahi-Buisson, Nadia
- Bailey, Kathryn M.
- Barth, Magalie
- Battini, Roberta
- Beresford, Michael W.
- Bernard, Geneviève
- Bianchi, Marika
- Blair, Edward M.
- Burlina, Alberto B.
- Luisa Carpanelli, Maria
- Castro-Gago, Manuel
- Cavallini, Anna
- Cereda, Cristina
- Chandler, Kate E.
- Chitayat, David A.
- Collins, Abigail E.
- Sierra Corcoles, Concepcion
- Cordeiro, Nuno J.V.
- Crichiutti, Giovanni
- Dabydeen, Lyvia
- Dale, Russell C.
- De Goede, Christian G.E.L.
- De Laet, Corinne
- De Waele, Liesbeth M.H.
- Desguerre, Isabelle
- Devriendt, Koenraad
- Fazzi, Elisa
- Figueiredo, António
- Gener, Blanca
- Goizet, Cyril
- Gowrishankar, Kalpana
- Hanrahan, Donncha
- Isidor, Bertrand
- Khan, Nasaim
- King, Mary D.
- Kumar, Ram
- Landrieu, Pierre
- Lauffer, Heinz
- Laugel, Vincent
- Lim, Ming J.
- Lin, Jean-Pierre S.-M.
- Linnankivi, Tarja
- Mackay, Mark T.
- Marom, Daphna R.
- McKee, Shane A.
- Murray, Kevin
- Nabbout, Rima
- Nampoothiri, Sheela
- Nunez-Enamorado, Noemi
- Oades, Patrick J.
- Ostergaard, John R.
- Pérez-Dueñas, Belén
- Prendiville, Julie S.
- Rasmussen, Magnhild
- Ricci, Federica
- Rio, Marlène
- Rodriguez, Diana
- Roubertie, Agathe
- Sinha, Gyanranjan P.
- Soler, Doriette
- Spiegel, Ronen
- Stödberg, Tommy I.
- Straussberg, Rachel
- Suri, Mohnish
- Tan, Tiong Y.
- te Water Naude, Johann
- Maria Valente, Enza
- van der Knaap, Marjo S.
- Vassallo, Grace
- Vijzelaar, Raymon
- Wallace, Geoffrey B.
- Wassmer, Evangeline
- Webb, Hannah J.
- Whitehouse, William P.
- Whitney, Robyn N.
- Zaki, Maha S.
- Zuberi, Sameer M.
- Livingston, John H.
- Rozenberg, Flore
- Vanderver, Adeline
- Orcesi, Simona
- Rice, Gillian I.
2015
Link zum Volltext
Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.171-176
- Welling, Lindsey
- Bernstein, Laurie E.
- Berry, Gerard T.
- Burlina, Alberto B.
- Eyskens, François
- Gautschi, Matthias
- Grünewald, Stephanie
- Gubbels, Cynthia S.
- Knerr, Ina
- Labrune, Philippe
- van der Lee, Johanna H.
- MacDonald, Anita
- Murphy, Elaine
- Portnoi, Pat A.
- Õunap, Katrin
- Potter, Nancy L.
- Rubio-Gozalbo, M. Estela
- Spencer, Jessica B.
- Timmers, Inge
- Treacy, Eileen P.
- Van Calcar, Sandra C.
- Waisbren, Susan E.
- Bosch, Annet M.
2017
Link zum Volltext
Journal of inherited metabolic disease, 2020-07, Vol.43 (4), p.748-757
2020
Link zum Volltext
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Erscheinungsjahr
n.n
n.n
Thema
- Science & Technology
- Life Sciences & Biomedicine
- Humans
- Female
- Genetics & Heredity
- Male
- Pediatrics
- Metabolic Diseases
- Child
- Infant
- Medicine, Research & Experimental
- Research & Experimental Medicine
- Biological And Medical Sciences
- Endocrinology & Metabolism
- Child, Preschool
- Medical Sciences
- Infant, Newborn
- Adolescent
- Adult
- Biochemistry
Kollektion
- MEDLINE
- RCN full-text journals@Ovid
- Ingenta
- Open access e-journals
- Wiley Online Library
- Elsevier ScienceDirect Journals Complete
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- SpringerLink (Online service)
- NUS Single-Journal Subscriptions
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- IngentaConnect Journals
- Wiley Online Library Full Collection 2018
- Springer Nature - Connect here FIRST to enable access
- Springer Book Series
- Oxford Journals
- Oxford Journals 2020 Medicine
- Nexis Uni
- EBSCOhost Business Source Ultimate
- Psychology & Behavioral Sciences Collection
- De Gruyter journals
Zeitschrift / Serie
Neu hinzugefügt