Publications by authors named "Ilse Kern"

17Publications

Parkinsonism is a Phenotypical Signature of Amyloidopathy in Patients with Gait Disorders.

J Alzheimers Dis 2018 ;63(4):1373-1381

Department of Clinical Neurosciences, Division of Neurology, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.3233/JAD-171055DOI Listing
June 2019

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

Rev Med Suisse 2017 Jan;13(546):159-163

Centre des maladies moléculaires, Service de génétique médicale, CHUV, 1011 Lausanne.

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January 2017

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Am J Med Genet A 2017 Sep 20;173(9):2456-2460. Epub 2017 Jun 20.

Pediatric Neurology Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.38317
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http://dx.doi.org/10.1002/ajmg.a.38317DOI Listing
September 2017

Acute cortical deafness in a child with MELAS syndrome.

J Inherit Metab Dis 2016 05 7;39(3):465-466. Epub 2016 Apr 7.

Pediatric Neurology Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1007/s10545-016-9929-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851687PMC
May 2016

Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.

Neuropediatrics 2014 Feb 25;45(1):64-8. Epub 2013 Sep 25.

Department of Pediatrics, Pediatric Nephrology and Metabolism Unit, Children's Hospital, University of Geneva, Switzerland.

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http://dx.doi.org/10.1055/s-0033-1353489DOI Listing
February 2014

Vitamin D deficiency: a forgotten treatable cause of motor delay and proximal myopathy.

Brain Dev 2014 Jan 27;36(1):84-7. Epub 2012 Dec 27.

Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Geneva Children's Hospital, Switzerland.

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http://dx.doi.org/10.1016/j.braindev.2012.11.014DOI Listing
January 2014

[New therapies for children affected by bone diseases].

Rev Med Suisse 2012 Feb;8(329):398-402

Division de pédiatrie moléculaire, CHUV et Université de Lausanne, 1011 Lausanne.

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February 2012

Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria.

Eur J Pediatr 2005 Jun 22;164(6):395-6. Epub 2005 Feb 22.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s00431-005-1638-7DOI Listing
June 2005

The midwife factor in obstetric procedures and neonatal outcome.

J Perinat Med 2002 ;30(3):242-9

Second Department of Surgery, LKH-Graz, Austria.

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http://dx.doi.org/10.1515/JPM.2002.034DOI Listing
December 2002