Kern I - Search Results

1

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

Tran C, Serratrice J, Nuoffer JM, Schaller A, Favrat B, Barbey F, Lobrinus JA, Kern I, Kuntzer T, Ballhausen D. Tran C, et al. Among authors: kern i. Rev Med Suisse. 2017 Jan 18;13(546):159-163. Rev Med Suisse. 2017. PMID: 28703515 Free article. Review. French.

2

[New therapies for children affected by bone diseases].

Ballhausen D, Dépraz NG, Kern I, Unger S, Bonafé L. Ballhausen D, et al. Among authors: kern i. Rev Med Suisse. 2012 Feb 22;8(329):398-402. Rev Med Suisse. 2012. PMID: 22432239 French.

3

[Inborn errors of metabolism: transition from childhood to adulthood].

Tran C, Barbey F, Pitteloud N, Philippe J, Kern I, Bonafé L. Tran C, et al. Among authors: kern i. Rev Med Suisse. 2015 Feb 18;11(462):445-9. Rev Med Suisse. 2015. PMID: 25915985 French.

4

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM. Schaller A, et al. Among authors: kern i. BMC Neurol. 2011 Jan 14;11:4. doi: 10.1186/1471-2377-11-4. BMC Neurol. 2011. PMID: 21235791 Free PMC article.

5

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

Rimella-Le-Huu A, Henry H, Kern I, Hanquinet S, Roulet-Perez E, Newman CJ, Superti-Furga A, Bonafé L, Ballhausen D. Rimella-Le-Huu A, et al. Among authors: kern i. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S381-6. doi: 10.1007/s10545-008-0959-x. Epub 2008 Aug 9. J Inherit Metab Dis. 2008. PMID: 18679822

6

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

Ranza E, Garcia-Tarodo S, Varvagiannis K, Guipponi M, Lobrinus JA, Bottani A, Kern I, Kurian M, Pittet MP, Antonarakis SE, Fluss J, Korff CM. Ranza E, et al. Among authors: kern i. Am J Med Genet A. 2017 Sep;173(9):2456-2460. doi: 10.1002/ajmg.a.38317. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631894

7

[Epigenetics and cancer].

Kern I, Rossier MF, Chappuis PO. Kern I, et al. Rev Med Suisse. 2007 Feb 28;3(100):540-2, 544-5. Rev Med Suisse. 2007. PMID: 17410941 Review. French.

8

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ; Study Group on Missed PKU and Missed to Follow-Up. van Wegberg AMJ, et al. J Pediatr. 2021 Dec;239:231-234.e2. doi: 10.1016/j.jpeds.2021.08.070. Epub 2021 Aug 30. J Pediatr. 2021. PMID: 34474089 Free article.

9

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S. Varvagiannis K, et al. Among authors: kern i. Neuropediatrics. 2018 Apr;49(2):150-153. doi: 10.1055/s-0037-1613681. Epub 2017 Dec 28. Neuropediatrics. 2018. PMID: 29284168

10

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

Porri S, Fluss J, Plecko B, Paschke E, Korff CM, Kern I. Porri S, et al. Among authors: kern i. Neuropediatrics. 2014 Feb;45(1):64-8. doi: 10.1055/s-0033-1353489. Epub 2013 Sep 25. Neuropediatrics. 2014. PMID: 24297574

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