Jaeken J - Search Results

1

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J. Barone R, et al. Among authors: jaeken j. J Inherit Metab Dis. 2007 Feb;30(1):107. doi: 10.1007/s10545-006-0486-6. Epub 2006 Dec 20. J Inherit Metab Dis. 2007. PMID: 17186415

2

Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Barone R, Fiumara A, Jaeken J. Barone R, et al. Among authors: jaeken j. Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192513 Review.

3

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: jaeken j. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725

4

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

Pettinato F, Mostile G, Battini R, Martinelli D, Madeo A, Biamino E, Frattini D, Garozzo D, Gasperini S, Parini R, Sirchia F, Sortino G, Sturiale L, Matthijs G, Morrone A, Di Rocco M, Rizzo R, Jaeken J, Fiumara A, Barone R. Pettinato F, et al. Among authors: jaeken j. Cerebellum. 2021 Aug;20(4):596-605. doi: 10.1007/s12311-021-01242-x. Epub 2021 Feb 22. Cerebellum. 2021. PMID: 33619652 Free PMC article.

5

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Barone R, Carchon H, Jansen E, Pavone L, Fiumara A, Bosshard NU, Gitzelmann R, Jaeken J. Barone R, et al. Among authors: jaeken j. J Inherit Metab Dis. 1998 Apr;21(2):167-72. doi: 10.1023/a:1005351927573. J Inherit Metab Dis. 1998. PMID: 9584269

6

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

Barone R, Pavone L, Fiumara A, Bianchini R, Jaeken J. Barone R, et al. Among authors: jaeken j. Brain Dev. 1999 Jun;21(4):260-3. doi: 10.1016/s0387-7604(99)00020-0. Brain Dev. 1999. PMID: 10392749

7

Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.

Calvo PL, Pagliardini S, Baldi M, Pucci A, Sturiale L, Garozzo D, Vinciguerra T, Barbera C, Jaeken J. Calvo PL, et al. Among authors: jaeken j. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S437-40. doi: 10.1007/s10545-008-1004-9. Epub 2008 Dec 9. J Inherit Metab Dis. 2008. PMID: 19067230 Review.

8

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. Barone R, et al. Among authors: jaeken j. J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30. J Neurol. 2015. PMID: 25355454

9

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

Sturiale L, Barone R, Palmigiano A, Ndosimao CN, Briones P, Adamowicz M, Jaeken J, Garozzo D. Sturiale L, et al. Among authors: jaeken j. Proteomics. 2008 Sep;8(18):3822-32. doi: 10.1002/pmic.200700496. Proteomics. 2008. PMID: 18712764

10

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. Barone R, et al. Among authors: jaeken j. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Ann Neurol. 2012. PMID: 23109149

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

442 results

Search Page

Filters