Publications by authors named "Bernd Schwahn"


Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Int J Mol Sci 2018 Mar 28;19(4). Epub 2018 Mar 28.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

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March 2018

A retrospective review of anesthesia and perioperative care in children with medium-chain acyl-CoA dehydrogenase deficiency.

Paediatr Anaesth 2017 Jan 29;27(1):60-65. Epub 2016 Nov 29.

Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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January 2017

Immediate versus delayed loading of strategic mini dental implants for the stabilization of partial removable dental prostheses: a patient cluster randomized, parallel-group 3-year trial.

BMC Oral Health 2016 Jul 30;17(1):30. Epub 2016 Jul 30.

Department of Prosthodontics, Gerodontology and Dental Materials, Private Practice, Morsbach-Lichtenberg, Germany and Greifswald University Hospital, Greifswald, Germany.

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July 2016

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

BMC Endocr Disord 2014 Apr 28;14:38. Epub 2014 Apr 28.

Paediatric Endocrinology Unit, Royal Hospital for Sick Children, Dalnair St, Yorkhill, G3 8SJ Glasgow, UK.

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April 2014

Osmotic regulation of hepatic betaine metabolism.

Am J Physiol Gastrointest Liver Physiol 2013 May 28;304(9):G835-46. Epub 2013 Feb 28.

Department of General Paediatrics, University Children's Hospital, Heinrich-Heine-University, Duesseldorf, Germany.

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May 2013

Cystic renal dysplasia as a leading sign of inherited metabolic disease.

Pediatr Nephrol 2007 Dec 19;22(12):2119-24. Epub 2007 Jul 19.

Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University, Moorenstrasse 5, 40225, Düsseldorf, Germany.

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December 2007