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1 . Academic Journal
The abnormal accumulation of heparan sulfate in patients with mucopolysaccharidosis prevents the elastolytic activity of cathepsin V
저자
by
Chazeirat, Thibault
;
Denamur, Sophie
;
Bojarski, Krzysztof K.
;
Andrault, Pierre-Marie
;
Sizaret, Damien
, et al.
소스
In
Carbohydrate Polymers
1 February 2021 253
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7 . Academic Journal
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet
저자
by
Cano, Aline
;
Resseguier, Noemie
;
Ouattara, Abdoulaye
;
De Lonlay, Pascale
;
Arnoux, Jean-Baptiste
, et al.
소스
In
The Journal of Pediatrics
May 2020 220:184-192
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7 . Academic Journal
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study.
저자
by
Tardieu, Marine
;
Cudejko, Céline
;
Cano, Aline
;
Hoebeke, Célia
;
Bernoux, Delphine
, et al.
소스
European Journal of Neurology
. Sep2023, Vol. 30 Issue 9, p2828-2837. 10p.
Open Access (Wiley)
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7 .
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake
저자
by
Civit, Antoine
;
Gueguen, Paul
;
Blasco, Helene
;
Benz-de-Bretagne, Isabelle
;
Lebredonchel, Élodie
, et al.
소스
In
Clinica Chimica Acta
1 November 2023 551
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7 . Academic Journal
Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France.
저자
by
Maler, Victor
;
Goetz, Violette
;
Tardieu, Marine
;
Khalil, Abderrahmane El
;
Alili, Jean Meidi
, et al.
소스
Orphanet Journal of Rare Diseases
. 6/8/2023, Vol. 18 Issue 1, p1-7. 7p.
Open Access (BioMed Central)
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7 . Academic Journal
Individual and Family Determinants for Quality of Life in Parents of Children With Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
저자
by
Ouattara, Abdoulaye
;
Resseguier, Noemie
;
Cano, Aline
;
de Lonlay, Pascale
;
Arnoux, Jean-Baptiste
, et al.
소스
Obstetrical & Gynecological Survey; Sep2023, Vol. 78 Issue 9, p513-515, 3p
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7 . Academic Journal
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
저자
by
Lefèvre, Charles R.
;
Labarthe, François
;
Dufour, Diane
;
Moreau, Caroline
;
Faoucher, Marie
, et al.
소스
International Journal of Neonatal Screening (IJNS); Mar2023, Vol. 9 Issue 1, p6, 14p
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7 . Academic Journal
Transition de la médecine pédiatrique vers la médecine d'adulte des patients atteints de maladies héréditaires du métabolisme. Recommandations de la filière G2m (Groupement des Maladies héréditaires du Métabolisme)
저자
by
Belmatoug, Nadia
;
Nadjar, Yann
;
Tardieu, Marine
;
Chabrol, Brigitte
;
de Lonlay, Pascale
.
소스
Médecine Thérapeutique: Pédiatrie
. jui-dec2022, Vol. 24 Issue 3/4, p171-179. 9p.
Scopus
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7 . Academic Journal
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency.
저자
by
Yverneau, Mathilde
;
Leroux, Stéphanie
;
Imbard, Apolline
;
Gleich, Florian
;
Arion, Alina
, et al.
소스
Journal of Inherited Metabolic Disease; Jul2022, Vol. 45 Issue 4, p848-861, 14p
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7 . Book
34 - Les encéphalopathies d’origines métaboliques à révélation néonatale : physiopathologie, et concepts actuels
저자
by
Labarthe, François
;
Tardieu, Marine
.
소스
In
Néonatologie : bases scientifiques
2017:447-462
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