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Author/Creator Harting, Inga

12. Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Issue 5 (4th September 2020)

Authors:
Kotzaeridou, Urania; Young‐Baird, Sara K.; Suckow, Vanessa; Thornburg, Alexis G.; Wagner, Matias; Harting, Inga; Christ, Stine; Strom, Tim; Dever, Thomas E.; Kalscheuer, Vera M.
Journal:
Clinical genetics
Issue:
Volume 98:Issue 5(2020)
Page Start:
507
Record Type:
Journal Article
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14. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. Issue 1 (16th November 2016)

Authors:
Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R.; Harting, Inga; Hoffmann, Georg F.; Karall, Daniela; Koeller, David M.; Krawinkel, Michael B.; Okun, Jürgen G.; Opladen, Thomas; Posset, Rol...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 1(2017)
Page Start:
75
Record Type:
Journal Article
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16. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. Issue 1 (5th November 2015)

Authors:
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; Ta...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 1(2016)
Page Start:
3
Record Type:
Journal Article
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17. SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). (October 2018)

Authors:
Lenz, Dominic; McClean, Patricia; Kansu, Aydan; Bonnen, Penelope; Ranucci, Giusy; Thiel, Christian; Straub, Beate; Harting, Inga; Alhaddad, Bader; Dimitrov, Bianca; Kotzaeridou, Urania; Wenning, Daniel; Iorio, Raffaele; Himes, Ryan; Kuloğlu, Zarife; Blakely, Emma; Taylor, Robert; Meitinger, Thoma...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1255
Record Type:
Journal Article
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18. Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening. Issue 6 (30th September 2021)

Authors:
Boy, Nikolas; Mohr, Alexander; Garbade, Sven F.; Freisinger, Peter; Heringer‐Seifert, Jana; Seitz, Angelika; Kölker, Stefan; Harting, Inga
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 6(2021)
Page Start:
1343
Record Type:
Journal Article
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