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Author/Creator Freisinger, Peter

1. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. Issue 2 (7th December 2015)

Authors:
Staufner, Christian; Lindner, Martin; Dionisi‐Vici, Carlo; Freisinger, Peter; Dobbelaere, Dries; Douillard, Claire; Makhseed, Nawal; Straub, Beate K.; Kahrizi, Kimia; Ballhausen, Diana; la Marca, Giancarlo; Kölker, Stefan; Haas, Dorothea; Hoffmann, Georg F.; Grünert, Sarah C.; Blom, Henk J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 2(2016)
Page Start:
273
Record Type:
Journal Article
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2. Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria. Issue 3 (1st February 2019)

Authors:
Pilotto, Andrea; Blau, Nenad; Leks, Edytha; Schulte, Claudia; Deuschl, Christian; Zipser, Carl; Piel, David; Freisinger, Peter; Gramer, Gwendolyn; Kölker, Stefan; Haas, Dorothea; Burgard, Peter; Nawroth, Peter; Georg, Hoffmann; Scheffler, Klaus; Berg, Daniela; Trefz, Friedrich
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
398
Record Type:
Journal Article
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3. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Issue 5 (14th April 2015)

Authors:
Huemer, Martina; Karall, Daniela; Schossig, Anna; Abdenur, Jose E.; Al Jasmi, Fatma; Biagosch, Caroline; Distelmaier, Felix; Freisinger, Peter; Graham, Brett H.; Haack, Tobias B.; Hauser, Natalie; Hertecant, Jozef; Ebrahimi‐Fakhari, Darius; Konstantopoulou, Vassiliki; Leydiker, Karen; Lourenco, C...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 5(2015)
Page Start:
905
Record Type:
Journal Article
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4. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias. Issue 4 (12th December 2017)

Authors:
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; S...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 4(2018)
Page Start:
741
Record Type:
Journal Article
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5. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015)

Authors:
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohd...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Number 5(2015:May)
Page Start:
492
Record Type:
Journal Article
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6. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. Issue 4 (18th January 2016)

Authors:
Koch, Johannes; Feichtinger, René G; Freisinger, Peter; Pies, Mechthild; Schrödl, Falk; Iuso, Arcangela; Sperl, Wolfgang; Mayr, Johannes A; Prokisch, Holger; Haack, Tobias B
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 4(2016)
Page Start:
270
Record Type:
Journal Article
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7. Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses. (16th November 2022)

Authors:
Cannet, Claire; Frauendienst‐Egger, Georg; Freisinger, Peter; Götz, Hermann; Götz, Madalina; Himmelreich, Nastassja; Kock, Vanessa; Spraul, Manfred; Bus, Christine; Biskup, Saskia; Trefz, Friedrich
Other Names:
Bathen Tone F. guestEditor.; Cheng Leo L. guestEditor.
Journal:
NMR in biomedicine
Issue:
Volume 36:Number 4(2023)
Page Start:
n/a
Record Type:
Journal Article
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8. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. Issue 1 (5th May 2012)

Authors:
Haack, Tobias B.; Rolinski, Boris; Haberberger, Birgit; Zimmermann, Franz; Schum, Jessica; Strecker, Valentina; Graf, Elisabeth; Athing, Uwe; Hoppen, Thomas; Wittig, Ilka; Sperl, Wolfgang; Freisinger, Peter; Mayr, Johannes A.; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 1(2013)
Page Start:
55
Record Type:
Journal Article
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9. Impact of age at onset and newborn screening on outcome in organic acidurias. Issue 3 (21st December 2015)

Authors:
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; S...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 3(2016)
Page Start:
341
Record Type:
Journal Article
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10. Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study. Issue 3 (15th December 2020)

Authors:
Märtner, E. M. Charlotte; Maier, Esther M.; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Santer, René; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Grünert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, S...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 3(2021)
Page Start:
629
Record Type:
Journal Article
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