Search Results

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples by Maier, Esther M. (Author) , Mütze, Ulrike (Author) , Janzen, Nils (Author) , Steuerwald, Ulrike (Author) , Nennstiel-Ratzel, Uta (Author) , Odenwald, Birgit (Author) , Schuhmann, Elfriede (Author) , Lotz-Havla, Amelie S. (Author) , Weiss, Katharina J. (Author) , Hammersen, Johanna (Author) , Weigel, Corina (Author) , Thimm, Eva (Author) , Grünert, Sarah (Author) , Hennermann, Julia B. (Author) , Freisinger, Peter (Author) , Krämer, Johannes (Author) , Das, Anibh M. (Author) , Illsinger, Sabine (Author) , Gramer, Gwendolyn (Author) , Fang-Hoffmann, Junmin (Author) , Garbade, Sven (Author) , Okun, Jürgen G. (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Röschinger, Wulf (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Compilation of genotype and phenotype data in GCDH-LOVD for variant classification and further application by Tibelius, Alexandra (Author) , Evers, Christina (Author) , Oeser, Sabrina (Author) , Rinke, Isabelle (Author) , Jauch, Anna (Author) , Hinderhofer, Katrin (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: an overview on European data by Molema, Femke (Author) , Martinelli, Diego (Author) , Hörster, Friederike (Author) , Kölker, Stefan (Author) , Tangeraas, Trine (Author) , Koning, Barbara de (Author) , Dionisi-Vici, Carlo (Author) , Williams, Monique (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform by Klinke, Glynis (Author) , Richter, Sylvia (Author) , Monostori, Péter (Author) , Schmidt‐Mader, Brigitte (Author) , García‐Cazorla, Angels (Author) , Artuch, Rafael (Author) , Christ, Stine (Author) , Opladen, Thomas (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) , Okun, Jürgen G. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Targeted metabolomic profiling of total fatty acids in human plasma by liquid chromatography-tandem mass spectrometry by Aidaros, Anas Al (Author) , Sharma, Charu (Author) , Langhans, Claus-Dieter (Author) , Okun, Jürgen G. (Author) , Hoffmann, Georg F. (Author) , Dasouki, Majed (Author) , Chakraborty, Pranesh (Author) , Aljasmi, Fatma (Author) , Al-Dirbashi, Osama Y. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Analysis of catecholamines and pterins in inborn errors of monoamine neurotransmitter metabolism: from past to future by Jung-Klawitter, Sabine (Author) , Kuseyri Hübschmann, Oya (Author) ,

• Verlag, Volltext
• Verlag

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): the ClinGen IEM Working Group and the phenylalanine hydroxylase gene by Zastrow, Diane B. (Author) , Baudet, Heather (Author) , Shen, Wei (Author) , Thomas, Amanda (Author) , Si, Yue (Author) , Weaver, Meredith A. (Author) , Lager, Angela M. (Author) , Liu, Jixia (Author) , Mangels, Rachel (Author) , Dwight, Selina S. (Author) , Wright, Matt W. (Author) , Dobrowolski, Steven F. (Author) , Eilbeck, Karen (Author) , Enns, Gregory M. (Author) , Feigenbaum, Annette (Author) , Lichter‐Konecki, Uta (Author) , Lyon, Elaine (Author) , Pasquali, Marzia (Author) , Watson, Michael (Author) , Blau, Nenad (Author) , Steiner, Robert D. (Author) , Craigen, William J. (Author) , Mao, Rong (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Metabolic evaluation of epilepsy: a diagnostic algorithm with focus on treatable conditions by Karnebeek, Clara D. M. van (Author) , Sayson, Bryan (Author) , Lee, Jessica J. Y. (Author) , Tseng, Laura A. (Author) , Blau, Nenad (Author) , Horvath, Gabriella A. (Author) , Ferreira, Carlos R. (Author) ,

Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias by Blau, Nenad (Author)

• Verlag, lizenzpflichtig, Volltext

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project by McHugh, David (Author) , Kohlmüller, Dirk (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext