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List of works by Jörn Oliver Sass

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

scientific article published on April 14, 2003

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

scientific article published on 28 April 2020

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

scientific article published on 14 February 2020

Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acid

scientific article published on 30 July 2019

Cyclophosphamide is a highly effective and safe induction therapy in chronic periaortitis: a long-term follow-up of 35 patients with chronic periaortitis

scientific article published on August 22, 2011

Disorders of the degradation of branched chain amino acids: What is new in clinics and laboratories?

scientific article published on 03 December 2011

Effects of all- trans -retinoic acid and all- trans -retinoyl glucuronide in two in vitro systems of distinct biological complexity

scientific article published on October 1, 2001

Expression of aspartoacylase (ASPA) and Canavan disease

scientific article published on June 28, 2012

Fanconi–Bickel syndrome: GLUT2 mutations associated with a mild phenotype

scientific article published on 08 December 2011

Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease

scientific article published on October 5, 2010

Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child

scientific article published on August 17, 2012

Inborn errors of ketogenesis and ketone body utilization

scientific article published on 09 April 2011

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management

scientific article published on 05 July 2013

Quantitation of total homocysteine in human plasma by derivatization to its N(O,S)-propoxycarbonyl propyl ester and gas chromatography–mass spectrometry analysis

scientific article published on 01 August 1997

S-Homocysteinylation of transthyretin is detected in plasma and serum of humans with different types of hyperhomocysteinemia

scientific article published on October 10, 2003

Single-run analysis of isomers of retinoyl-β-D-glucuronide and retinoic acid by reversed-phase high-performance liquid chromatography

scientific article published on November 11, 1994

The molecular basis of aminoacylase 1 deficiency

scientific article published on March 23, 2011

Treatment of neonatal hyperammonaemia

scientific article published on November 17, 2001

Two inborn errors of metabolism in a newborn: Glutaric aciduria type I combined with isobutyrylglycinuria

scientific article published on September 17, 2010