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Items: 1 to 50 of 249

1.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.

PMID:
30773687
2.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G.

Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18.

PMID:
30659139
3.

Sex differences in mandibular repositioning device therapy effectiveness in patients with obstructive sleep apnea syndrome.

Vecchierini MF, Attali V, Collet JM, d'Ortho MP, Goutorbe F, Kerbrat JB, Leger D, Lavergne F, Monaca C, Monteyrol PJ, Morin L, Mullens E, Pigearias B, Martin F, Khemliche H, Lerousseau L, Meurice JC; ORCADES investigators, Abedipour D, Allard-Redon A, Aranda A, Attali V, Bavozet F, Becu M, Beruben W, Bessard J, Bonafe I, Boukhana M, Chabrol B, Chatte G, Lebret C, Collet JM, Coste O, Dumont N, Durand-Amat S, D'ortho MP, Elbaum JM, De Santerre OG, Goutorbes F, Grandjean T, Guyot W, Hammer D, Havasi C, Huet P, Kerbrat JB, Khemliche H, Koltes C, Leger D, Lacassagne L, Laur X, Lerousseau L, Liard O, Loisel C, Longuet M, Mallart A, Martin F, Merle Beral F, Meurice JC, Mokhtari Z, Monaca C, Monteyrol PJ, Muir JF, Mullens E, Muller D, Paoli C, Petit FX, Pigearias B, Pradines M, Prigent A, Putterman G, Rey M, Samama M, Tamisier R, Tiberge M, Tison C, Tordjman F, Triolet B, Vacher C, Vecchierini MF, Verain A.

Sleep Breath. 2018 Dec 22. doi: 10.1007/s11325-018-1766-8. [Epub ahead of print]

PMID:
30580418
4.

The medical and social outcome in 2016 of infants who were victims of shaken baby syndrome between 2005 and 2013.

Antonietti J, Resseguier N, Dubus JC, Scavarda D, Girard N, Chabrol B, Bosdure E.

Arch Pediatr. 2019 Jan;26(1):21-29. doi: 10.1016/j.arcped.2018.10.002. Epub 2018 Dec 14.

PMID:
30554853
5.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M.

Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

PMID:
30552423
6.

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N.

BMJ Open. 2018 Oct 28;8(10):e021632. doi: 10.1136/bmjopen-2018-021632.

7.

Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlations.

Hoebeke C, Bonello-Palot N, Audic F, Boulay C, Tufod D, Attarian S, Chabrol B.

Arch Pediatr. 2018 Nov;25(8):452-458. doi: 10.1016/j.arcped.2018.09.006. Epub 2018 Oct 16.

PMID:
30340945
8.

Muscle Shortening and Spastic Cocontraction in Gastrocnemius Medialis and Peroneus Longus in Very Young Hemiparetic Children.

Vinti M, Bayle N, Merlo A, Authier G, Pesenti S, Jouve JL, Chabrol B, Gracies JM, Boulay C.

Biomed Res Int. 2018 May 21;2018:2328601. doi: 10.1155/2018/2328601. eCollection 2018.

9.

Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).

Chabrol B, Jacquin P, Francois L, Broué P, Dobbelaere D, Douillard C, Dubois S, Feillet F, Perrier A, Fouilhoux A, Labarthe F, Lamireau D, Mazodier K, Maillot F, Mochel F, Schiff M, Belmatoug N.

Arch Pediatr. 2018 Jun 15. pii: S0929-693X(18)30115-5. doi: 10.1016/j.arcped.2018.05.009. [Epub ahead of print]

PMID:
29914755
10.

Infant botulism: Two case reports and electroneuromyogram findings.

Bernardor J, Neveu J, Haas H, Pitelet G, Popoff MR, Mazuet C, Bérard E, Boulay C, Chabrol B.

Arch Pediatr. 2018 Jun 7. pii: S0929-693X(18)30108-8. doi: 10.1016/j.arcped.2018.05.002. [Epub ahead of print]

PMID:
29887515
11.

Feedforward motor control in developmental dyslexia and developmental coordination disorder: Does comorbidity matter?

Cignetti F, Vaugoyeau M, Fontan A, Jover M, Livet MO, Hugonenq C, Audic F, Chabrol B, Assaiante C.

Res Dev Disabil. 2018 May;76:25-34. doi: 10.1016/j.ridd.2018.03.001. Epub 2018 Mar 14.

PMID:
29547764
12.

2018, a turning point for the Archives de Pédiatrie.

Chabrol B.

Arch Pediatr. 2018 Jan;25(1):1-2. doi: 10.1016/j.arcped.2017.12.013. No abstract available.

PMID:
29332702
13.

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):741-742. doi: 10.1007/s10545-017-0116-5.

PMID:
29234995
14.

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Schwartz M, Sternberg D, Whalen S, Afenjar A, Isapof A, Chabrol B, Portnoï MF, Heide S, Keren B, Chantot-Bastaraud S, Siffroi JP.

Am J Med Genet A. 2018 Jan;176(1):151-155. doi: 10.1002/ajmg.a.38515. Epub 2017 Nov 12.

PMID:
29130637
15.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P.

J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. Review.

PMID:
28954837
16.

Clinical features and evolution of juvenile myasthenia gravis in a French cohort.

Barraud C, Desguerre I, Barnerias C, Gitiaux C, Boulay C, Chabrol B.

Muscle Nerve. 2018 Apr;57(4):603-609. doi: 10.1002/mus.25965. Epub 2017 Oct 11.

PMID:
28877546
17.

[From TORCH to TORCHZ: Zika virus infection highlights infectious fetopathies].

Morand A, Zandotti C, Charrel R, Minodier P, Fabre A, Chabrol B, De Lamballerie X.

Arch Pediatr. 2017 Oct;24(10):911-913. doi: 10.1016/j.arcped.2017.08.002. Epub 2017 Sep 1. French. No abstract available.

PMID:
28870816
18.

[Teaching pediatrics to residents via conventional lectures in France: A national survey from students].

Girard B, Bendavid M, Faivre JC, Salleron J, Debillon T, Claris O, Chabrol B, Schweitzer C, Gajdos V.

Arch Pediatr. 2017 Aug;24(8):728-736. doi: 10.1016/j.arcped.2017.05.009. Epub 2017 Jun 29. French.

PMID:
28669648
19.

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Rouzier C, Chabrol B, Paquis-Flucklinger V.

Mol Genet Metab. 2017 Jul;121(3):224-226. doi: 10.1016/j.ymgme.2017.05.002. Epub 2017 May 4.

PMID:
28529009
20.

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Villeneuve N, Abidi A, Cacciagli P, Mignon-Ravix C, Chabrol B, Villard L, Milh M.

Eur J Paediatr Neurol. 2017 Sep;21(5):783-786. doi: 10.1016/j.ejpn.2017.04.001. Epub 2017 Apr 29.

PMID:
28506426
21.

Neurocognitive profiles in MSUD school-age patients.

Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M.

J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21.

PMID:
28324240
22.

Archives de pédiatrie : quelle revue pour demain ?

Chabrol B, Delacourt C, Sarles J.

Arch Pediatr. 2017 Mar;24(3):209-210. doi: 10.1016/j.arcped.2017.02.001. French. No abstract available.

PMID:
28262201
23.

[Chest X-ray and acute bronchiolitis: Are these indications decreasing?]

Arnoux V, Carsin A, Bosdure E, Retornaz K, Chabrol B, Gorincour G, Mancini J, Dabadie A, Dubus JC.

Arch Pediatr. 2017 Jan;24(1):10-16. doi: 10.1016/j.arcped.2016.10.016. Epub 2016 Nov 21. French.

PMID:
27884536
24.

"Corynebacterium urinapleomorphum" sp. nov., isolated from a urine sample of a 2-month-old boy affected by rotavirus gastroenteritis.

Morand A, Chabrol B, Cadoret F, Fournier PE, Raoult D.

New Microbes New Infect. 2016 Sep 30;15:21-23. eCollection 2017 Jan.

25.

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

Morel G, Bannwarth S, Chaussenot A, Cano A, Fragaki K, Ait-El-Mkadem S, Rouzier C, De Paula AM, Chabrol B, Paquis-Flucklinger V.

Neuromuscul Disord. 2016 Dec;26(12):885-889. doi: 10.1016/j.nmd.2016.09.012. Epub 2016 Sep 16.

PMID:
27816331
26.

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.

Husson MC, Schiff M, Fouilhoux A, Cano A, Dobbelaere D, Brassier A, Mention K, Arnoux JB, Feillet F, Chabrol B, Guffon N, Elie C, de Lonlay P.

Orphanet J Rare Dis. 2016 Sep 23;11(1):127.

27.

[Infant food diversification. Assessment of practices in relation to French recommendations in pediatricians and pediatric residents in southern France].

Banti T, Carsin A, Chabrol B, Reynaud R, Fabre A.

Arch Pediatr. 2016 Oct;23(10):1018-1027. doi: 10.1016/j.arcped.2016.07.007. Epub 2016 Sep 15. French.

PMID:
27642151
28.

[Complementary exams in child abuse: A French national study in 2015].

Ledoyen A, Bresson V, Dubus JC, Tardieu S, Petit P, Chabrol B, Bosdure E.

Arch Pediatr. 2016 Oct;23(10):1028-1039. doi: 10.1016/j.arcped.2016.07.001. Epub 2016 Sep 15. French.

PMID:
27642147
29.

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA.

J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4. No abstract available.

PMID:
27498540
30.

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.

Busa T, Caietta E, Chabrol B, Girard N, Philip N, Missirian C.

Clin Dysmorphol. 2017 Jan;26(1):47-49. No abstract available.

PMID:
27390894
31.

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA.

J Inherit Metab Dis. 2016 Sep;39(5):713-723. doi: 10.1007/s10545-016-9945-x. Epub 2016 Jun 10. Erratum in: J Inherit Metab Dis. 2016 Sep;39(5):759.

PMID:
27287710
32.

[Infant food diversification: Is the information available on the Internet valid?].

Banti T, Carsin A, Chabrol B, Fabre A.

Arch Pediatr. 2016 Jul;23(7):706-13. doi: 10.1016/j.arcped.2016.04.017. Epub 2016 Jun 2. French.

PMID:
27265584
33.

Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

Sedel F, Chabrol B, Audoin B, Kaphan E, Tranchant C, Burzykowski T, Tourbah A, Vanier MT, Galanaud D.

J Neurol. 2016 May;263(5):927-936. doi: 10.1007/s00415-016-8051-1. Epub 2016 Mar 16.

34.

[Principles of multidisciplinary management of Duchenne muscular dystrophy].

Chabrol B, Mayer M.

Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S69-72. doi: 10.1016/S0929-693X(16)30012-4. French.

PMID:
26773590
35.

[Muscular dystrophies: From Duchenne to Becker].

Chabrol B, Desguerre I.

Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S1-2. doi: 10.1016/S0929-693X(16)30001-X. French. No abstract available.

PMID:
26773579
36.

Neuroimaging differential diagnoses to abusive head trauma.

Girard N, Brunel H, Dory-Lautrec P, Chabrol B.

Pediatr Radiol. 2016 May;46(5):603-14. doi: 10.1007/s00247-015-3509-3. Epub 2015 Dec 30. Review.

PMID:
26718196
37.

Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2016 May;39(3):341-353. doi: 10.1007/s10545-015-9907-8. Epub 2015 Dec 21. Erratum in: J Inherit Metab Dis. 2017 Dec 12;:.

PMID:
26689403
38.

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

Di Meglio C, Bonello-Palot N, Boulay C, Milh M, Ovaert C, Levy N, Chabrol B.

Brain Dev. 2016 May;38(5):498-506. doi: 10.1016/j.braindev.2015.11.006. Epub 2015 Dec 10.

PMID:
26686600
39.

Planovalgus foot deformity in cerebral palsy corrected by botulinum toxin injection in the peroneus longus: Clinical and radiological evaluations in young children.

Boulay C, Jacquemier M, Castanier E, Giorgi H, Authier G, Pomero V, Chabrol B, Jouve JL, Bollini G, Viehweger E.

Ann Phys Rehabil Med. 2015 Dec;58(6):316-21. doi: 10.1016/j.rehab.2015.09.001. Epub 2015 Oct 23.

40.

Cerebral (18)FluoroDeoxy-Glucose Positron Emission Tomography in paediatric anti N-methyl-D-aspartate receptor encephalitis: A case series.

Lagarde S, Lepine A, Caietta E, Pelletier F, Boucraut J, Chabrol B, Milh M, Guedj E.

Brain Dev. 2016 May;38(5):461-70. doi: 10.1016/j.braindev.2015.10.013. Epub 2015 Nov 2.

PMID:
26542469
41.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M.

Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29.

42.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S.

Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4.

43.

[Study of reports to the departmental home of disabled children placed in social assistance to children in the Bouches-du-Rhône].

de Montaigne L, Bernard O, Da Fonseca D, Gaudart J, Richardson A, Soffer M, Chabrol B, Dubus JC, Bosdure E.

Arch Pediatr. 2015 Sep;22(9):932-42. doi: 10.1016/j.arcped.2015.06.018. Epub 2015 Aug 3. French.

PMID:
26251055
44.

[Research activity during residency in pediatrics: an opportunity for early publication].

Claris O, Chabrol B.

Arch Pediatr. 2015 Aug;22(8):799-801. doi: 10.1016/j.arcped.2015.05.009. Epub 2015 Jul 2. French. No abstract available.

PMID:
26142762
45.

CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

Morel G, Rouzier C, Chaussenot A, Ait-El-Mkadem S, Bannwarth S, Genin EC, Augé G, Chabrol B, Pouget J, Soriani MH, Sacconi S, Paquis-Flucklinger V.

Ann Neurol. 2015 Nov;78(5):831. doi: 10.1002/ana.24464. Epub 2015 Aug 31. No abstract available.

PMID:
26095063
46.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG.

J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y. No abstract available.

PMID:
26077421
47.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1155-6. doi: 10.1007/s10545-015-9867-z. No abstract available.

PMID:
26077420
48.

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.

Guffon N, Heron B, Chabrol B, Feillet F, Montauban V, Valayannopoulos V.

Orphanet J Rare Dis. 2015 Apr 12;10:43. doi: 10.1186/s13023-015-0259-0.

49.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

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