Sortiert nach
Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.1-371, Article 371
2021
Link zum Volltext
Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.219-229
2016
Link zum Volltext
Annals of neurology, 2019-07, Vol.86 (1), p.116-128
- Posset, Roland
- Gropman, Andrea L.
- Nagamani, Sandesh C. S.
- Burrage, Lindsay C.
- Bedoyan, Jirair K.
- Wong, Derek
- Berry, Gerard T.
- Baumgartner, Matthias R.
- Yudkoff, Marc
- Zielonka, Matthias
- Hoffmann, Georg F.
- Burgard, Peter
- Schulze, Andreas
- McCandless, Shawn E.
- Garcia‐Cazorla, Angeles
- Seminara, Jennifer
- Garbade, Sven F.
- Kölker, Stefan
- Lee, Brendan
- Harding, Cary O.
- Coughlin, Curtis R.
- Le Mons, Cynthia
- Dobbelaere, Dries
- Leão Teles, Elisa
- Cortès‐Saladelafont, Elisenda
- Gleich, Florian
- Eyskens, Francois
- Enns, Gregory
- Wilkening, Greta N.
- Barić, Ivo
- Lawrence Merritt, J.
- Heringer, Jana
- Blasco‐Alonso, Javier
- Zeman, Jiri
- Häberle, Johannes
- Sykut‐Cegielska, Jolanta
- Djordjevic, Maja
- Batshaw, Mark L.
- Summar, Marshall
- Freisinger, Peter
- Gallagher, Renata C.
- Berry, Susan A.
- Waisbren, Susan
- Stricker, Tamar
2019
Link zum Volltext
Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.44-44, Article 44
2011
Link zum Volltext
Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.3-16
- Staufner, Christian
- Haack, Tobias B.
- Köpke, Marlies G.
- Straub, Beate K.
- Kölker, Stefan
- Thiel, Christian
- Freisinger, Peter
- Baric, Ivo
- McKiernan, Patrick J.
- Dikow, Nicola
- Harting, Inga
- Beisse, Flemming
- Burgard, Peter
- Kotzaeridou, Urania
- Lenz, Dominic
- Kühr, Joachim
- Himbert, Urban
- Taylor, Robert W.
- Distelmaier, Felix
- Vockley, Jerry
- Ghaloul-Gonzalez, Lina
- Ozolek, John A.
- Zschocke, Johannes
- Kuster, Alice
- Dick, Anke
- Das, Anib M.
- Wieland, Thomas
- Terrile, Caterina
- Strom, Tim M.
- Meitinger, Thomas
- Prokisch, Holger
- Hoffmann, Georg F.
2016
Link zum Volltext
Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.284-284
2021
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
Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.474-474, Article 474
2021
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
Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.661-672
- Posset, Roland
- Garcia-Cazorla, Angeles
- Valayannopoulos, Vassili
- Teles, Elisa Leão
- Dionisi-Vici, Carlo
- Brassier, Anaïs
- Burlina, Alberto B.
- Burgard, Peter
- Cortès-Saladelafont, Elisenda
- Dobbelaere, Dries
- Couce, Maria L.
- Sykut-Cegielska, Jolanta
- Häberle, Johannes
- Lund, Allan M.
- Chakrapani, Anupam
- Schiff, Manuel
- Walter, John H.
- Zeman, Jiri
- Vara, Roshni
- Kölker, Stefan
2016
Link zum Volltext
Pediatric research, 2007-08, Vol.62 (2), p.225-230
2007
Link zum Volltext
Pediatric rheumatology online journal, 2024-02, Vol.22 (1), p.28-28
2024
Link zum Volltext
Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.93-93, Article 93
- Grasemann, Corinna
- Höppner, Jakob
- Burgard, Peter
- Schündeln, Michael M
- Matar, Nora
- Müller, Gabriele
- Krude, Heiko
- Berner, Reinhard
- Lee-Kirsch, Min Ae
- Hauck, Fabian
- Wainwright, Kerstin
- Baumgarten, Sylvana
- Atinga, Janet
- Bauer, Jens J
- Manka, Eva
- Körholz, Julia
- Kiewert, Cordula
- Heinen, André
- Kretschmer, Tanita
- Kurth, Tobias
- Mittnacht, Janna
- Schramm, Christoph
- Klein, Christoph
- Graessner, Holm
- Hiort, Olaf
- Muntau, Ania C
- Grüters, Annette
- Hoffmann, Georg F
- Choukair, Daniela
2023
Link zum Volltext
Journal of inherited metabolic disease, 2013-07, Vol.36 (4), p.635-644
2013
Link zum Volltext
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document
2014
Link zum Volltext
Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.657-667
2018
Link zum Volltext
Cell reports (Cambridge), 2019-11, Vol.29 (8), p.2144-2153.e7
- Lerner, Shaul
- Anderzhanova, Elmira
- Verbitsky, Sima
- Eilam, Raya
- Kuperman, Yael
- Tsoory, Michael
- Kuznetsov, Yuri
- Brandis, Alexander
- Mehlman, Tevie
- Mazkereth, Ram
- Alber, Fabienne Dietrich
- Babikian, Talin
- Bender, Heidi
- Boys, Christopher
- Breiger, David
- Buerger, Corinna
- Burgard, Peter
- Nguyen-Driver, Mina
- Goodlett, Benjamin
- Kerr, Elizabeth
- Krueger, Casey
- Mamak, Eva
- Sanz, Jacqueline H.
- Schwartz, David
- Caudle, Susan
- Stefanos, Arianna
- Tangen, Rachel
- Walter, Magdalena
- Waisbren, Susan
- Wilkening, Greta
- McCarter, Robert
- Segal, Menahem
- Nagamani, Sandesh C.S.
- Chen, Alon
- Erez, Ayelet
2019
Link zum Volltext
Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.80-80, Article 80
2019
Link zum Volltext
Nutrients, 2018-12, Vol.10 (12), p.1944
2018
Link zum Volltext
Journal of inherited metabolic disease, 2020-12
2020
Link zum Volltext
Journal of Mother and Child, 2020-10, Vol.24 (2), p.65-72
2020
Link zum Volltext
Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
2012
Link zum Volltext
Metabolites, 2021-10, Vol.11 (10), p.680
2021
Link zum Volltext
Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.1-2
2019
Link zum Volltext
Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.72-80
2012
Link zum Volltext
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Erscheinungsjahr
n.n
n.n
Thema
- Science & Technology
- Life Sciences & Biomedicine
- Humans
- Genetics & Heredity
- Pediatrics
- Female
- Endocrinology & Metabolism
- Male
- Medicine, Research & Experimental
- Metabolic Diseases
- Research & Experimental Medicine
- Child
- Medicine
- Medicine & Public Health
- Biochemistry
- Human Genetics
- Internal Medicine
- Adult
- Adolescent
- Infant, Newborn
Kollektion
- Lippincott Journal Package
- Springer Nature - Complete Springer Journals
- Wiley Online Library All Journals
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- EZB Electronic Journals Library
- IngentaConnect
- NUS Single-Journal Subscriptions
- Ebook Central Perpetual and DDA
- eBooks on EBSCOhost
- IngentaConnect Journals
- Springer Books
- Elsevier ScienceDirect Journals Complete
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Springer Nature - Connect here FIRST to enable access
- Wiley Online Library
- SpringerLink Series
- Nexis Uni
- JSTOR
- Literature Online (LION)
- Project MUSE - Single Title Subscriptions
Zeitschrift / Serie
- Journal Of Inherited Metabolic Disease
- Pediatric Research
- European Journal Of Pediatrics
- Orphanet Journal Of Rare Diseases
- Molecular Genetics And Metabolism
- Deutsche Vierteljahrsschrift Für Literaturwissenschaft Und Geistesgeschichte
- American Journal Of Human Genetics
- Annals Of Neurology
- Cancers
- European Journal Of Pediatrics. Supplement
Neu hinzugefügt