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	1.	Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. [electronic resource] by Baumgartner, Matthias R Producer: 20140327 In: Handbook of clinical neurology vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Peroxisomal disorders. [electronic resource] by Baumgartner, Matthias R Saudubray, Jean Marie Producer: 20021002 In: Seminars in neonatology : SN vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Complex lipids. [electronic resource] by Saudubray, Jean-Marie Baumgartner, Matthias R Wanders, Ronald Producer: 20151008 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Laughing Gas in a Pediatric Emergency Department-Fun for All Participants: Vitamin B12 Status Among Medical Staff Working With Nitrous Oxide. [electronic resource] by Staubli, Georg Baumgartner, Matthias Sass, Jörn Oliver Hersberger, Martin Producer: 20170424 In: Pediatric emergency care vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report. [electronic resource] by Heiber, Stefanie Zulewski, Henryk Zaugg, Marianne Kiss, Caroline Baumgartner, Matthias Producer: 20150618 In: JIMD reports vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	[The basics of lysosomal storage diseases]. [electronic resource] by Tamò, Raphaël Rohrbach, Marianne Baumgartner, Matthias Beuschlein, Felix Nowak, Albina Producer: 20190611 In: Therapeutische Umschau. Revue therapeutique vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. [electronic resource] by Dirik, Eray Yiş, Uluç Paşaoğlu, Güven Chambaz, Céline Baumgartner, Matthias R Producer: 20080530 In: Brain & development vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review. [electronic resource] by Zeltner, Nina A Huemer, Martina Baumgartner, Matthias R Landolt, Markus A Producer: 20160209 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. [electronic resource] by Stucki, Martin Suormala, Terttu Fowler, Brian Valle, David Baumgartner, Matthias R Producer: 20091124 In: The Journal of biological chemistry vol. 284 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. [electronic resource] by Badertscher, Andrea Bauersfeld, Urs Arbenz, Urs Baumgartner, Matthias R Schinzel, Albert Balmer, Christian Producer: 20081230 In: Acta paediatrica (Oslo, Norway : 1992) vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. [electronic resource] by Stucki, Martin Coelho, David Suormala, Terttu Burda, Patricie Fowler, Brian Baumgartner, Matthias R Producer: 20120807 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria. [electronic resource] by Hochuli, Michel Bollhalder, Sandra Thierer, Carina Refardt, Julie Gerber, Philipp Baumgartner, Matthias R Producer: 20190617 In: Annals of nutrition & metabolism vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Peer review fraud-it's not big and it's not clever. [electronic resource] by Rahman, Shamima Baumgartner, Matthias R Morava, Eva Patterson, Marc Peters, Verena Zschocke, Johannes Producer: 20161017 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. [electronic resource] by Forny, Patrick Froese, D Sean Suormala, Terttu Yue, Wyatt W Baumgartner, Matthias R Producer: 20150708 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. [electronic resource] by Hochuli, Michel Christ, Emanuel Meienberg, Fabian Lehmann, Roger Krützfeldt, Jan Baumgartner, Matthias R Producer: 20160920 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Quo vadis: the re-definition of "inborn metabolic diseases". [electronic resource] by Morava, Eva Rahman, Shamima Peters, Verena Baumgartner, Matthias R Patterson, Marc Zschocke, Johannes Producer: 20160920 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Subacute bilateral visual loss in methylmalonic acidemia. [electronic resource] by Traber, Ghislaine Baumgartner, Matthias R Schwarz, Urs Pangalu, Athina Donath, Marc Y Landau, Klara Producer: 20120229 In: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. [electronic resource] by Schlotawa, Lars Radhakrishnan, Karthikeyan Baumgartner, Matthias Schmid, Regula Schmidt, Bernhard Dierks, Thomas Gärtner, Jutta Producer: 20140324 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland. [electronic resource] by Rueegg, Corina S Kuehni, Claudia E Gallati, Sabina Baumgartner, Matthias Torresani, Toni Barben, Juerg Producer: 20140106 In: Deutsches Arzteblatt international vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. [electronic resource] by Laemmle, Alexander Balmer, Christian Doell, Carsten Sass, Jörn Oliver Häberle, Johannes Baumgartner, Matthias R Producer: 20150305 In: European journal of pediatrics vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 108 results.