Search Results - "Freihuber C"

Intoxication néonatale à la pyriméthamine : un risque lié à l’absence de forme galénique pédiatrique ?

Alternate Title: Neonatal intoxication to pyrimethamine: Risk due to the absence of pediatric formulation?

Authors: Genuini, M. Freihuber, C. Girard, I. et al.

Source: Archives de Pédiatrie. Oct2011, Vol. 18 Issue 10, p1084-1086. 3p.

Effet du sévoflurane sur l’activité electroencéphalographique du nouveau-né prématuré. Étude pilote.

Authors: Freihuber, C. Roussel, M. Vermersch, A.-I. et al.

Source: Annales Francaises d'Anesthesie & de Reanimation. Sep2014 Supplement 2, Vol. 33, pA92-A93. 1p.

Paroxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia!

Authors: Escudier, A. Giabicani, E. Neven, B. et al.

Source: Archives de Pédiatrie. Feb2020, Vol. 27 Issue 2, p104-106. 3p.

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Authors: Cogan G Zaki MS Issa M et al.

Source: Human genetics [Hum Genet] 2024 Nov; Vol. 143 (11), pp. 1353-1362. Date of Electronic Publication: 2024 Oct 04.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Authors: Riant F Burglen L Corpechot M et al.

Source: Clinical genetics [Clin Genet] 2023 Sep; Vol. 104 (3), pp. 365-370. Date of Electronic Publication: 2023 May 13.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

Authors: Freihuber C Dahmani-Rabehi B Brassier A et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 204. Date of Electronic Publication: 2023 Jul 21.

Publication Type: Observational Study; Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Predictive Performance of Population Pharmacokinetic Models of Levetiracetam in Children and Evaluation of Dosing Regimen.

Authors: Tauzin M Tréluyer JM Nabbout R et al.

Source: Journal of clinical pharmacology [J Clin Pharmacol] 2021 Oct; Vol. 61 (10), pp. 1366-1375. Date of Electronic Publication: 2021 Jun 12.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 0366372 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4604 (Electronic) Linking ISSN: 00912700 NLM ISO Abbreviation: J Clin Pharmacol Subsets: MEDLINE

Dosing Recommendations for Lamotrigine in Children: Evaluation Based on Previous and New Population Pharmacokinetic Models.

Authors: Tauzin M Tréluyer JM Nabbout R et al.

Source: Journal of clinical pharmacology [J Clin Pharmacol] 2021 May; Vol. 61 (5), pp. 677-687. Date of Electronic Publication: 2020 Dec 14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 0366372 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4604 (Electronic) Linking ISSN: 00912700 NLM ISO Abbreviation: J Clin Pharmacol Subsets: MEDLINE

Lessons learned from 40 novel PIGA patients and a review of the literature.

Authors: Bayat A Knaus A Pendziwiat M et al.

Source: Epilepsia [Epilepsia] 2020 Jun; Vol. 61 (6), pp. 1142-1155. Date of Electronic Publication: 2020 May 26.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Authors: Maljevic S Keren B Aung YH et al.

Source: Brain : a journal of neurology [Brain] 2019 May 01; Vol. 142 (5), pp. e15.

Publication Type: Letter; Research Support, Non-U.S. Gov't; Comment

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Simulations of Valproate Doses Based on an External Evaluation of Pediatric Population Pharmacokinetic Models.

Authors: Tauzin M Tréluyer JM Nabbout R et al.

Source: Journal of clinical pharmacology [J Clin Pharmacol] 2019 Mar; Vol. 59 (3), pp. 406-417. Date of Electronic Publication: 2018 Nov 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 0366372 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4604 (Electronic) Linking ISSN: 00912700 NLM ISO Abbreviation: J Clin Pharmacol Subsets: MEDLINE