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Items: 1 to 20 of 164

1.

Secondary disorders of glycosylation in inborn errors of fructose metabolism.

Quintana E, Sturiale L, Montero R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch R, Briones P.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S273-8. doi: 10.1007/s10545-009-1219-4.

PMID:
19768653
2.

Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.

Adamowicz M, Płoski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E.

J Inherit Metab Dis. 2007 Jun;30(3):407.

PMID:
17457694
3.

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, Kadoya M, Janssen A, Van den Heuvel LP, Morava E, Zeman J, Wevers RA, Lefeber DJ.

J Inherit Metab Dis. 2011 Aug;34(4):901-6. doi: 10.1007/s10545-011-9311-y.

4.

Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia.

Pronicka E, Adamowicz M, Kowalik A, Płoski R, Radomyska B, Rogaszewska M, Rokicki D, Sykut-Cegielska J.

Pediatr Res. 2007 Jul;62(1):101-5.

PMID:
17515832
5.

Improvement of CDG diagnosis by combined examination of several glycoproteins.

Fang J, Peters V, Assmann B, Körner C, Hoffmann GF.

J Inherit Metab Dis. 2004;27(5):581-90. Erratum in: J Inherit Metab Dis. 2005;28(2):245. Assmann, B [added].

PMID:
15669673
6.

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.

Proteomics. 2008 Sep;8(18):3822-32. doi: 10.1002/pmic.200700496.

PMID:
18712764
7.

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.

Caciotti A, Donati MA, Adami A, Guerrini R, Zammarchi E, Morrone A.

Eur J Gastroenterol Hepatol. 2008 Feb;20(2):118-21. doi: 10.1097/MEG.0b013e3282f172e6.

PMID:
18188031
8.
9.

Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx.

Nsibu NC, Jaeken J, Carchon H, Mampunza M, Sturiale L, Garozzo D, Mashako MN, Tshibassu MP.

Eur J Paediatr Neurol. 2008 May;12(3):257-61.

PMID:
17884642
10.

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

Quintana E, Navarro-Sastre A, Hernández-Pérez JM, García-Villoria J, Montero R, Artuch R, Ribes A, Briones P.

Clin Biochem. 2009 Mar;42(4-5):408-15. doi: 10.1016/j.clinbiochem.2008.12.013.

PMID:
19146845
11.

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F.

Hum Mutat. 2010 Dec;31(12):1294-303. doi: 10.1002/humu.21359.

PMID:
20848650
12.

Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.

Michelakakis H, Moraitou M, Mavridou I, Dimitriou E.

Clin Chim Acta. 2009 Mar;401(1-2):81-3. doi: 10.1016/j.cca.2008.11.024.

PMID:
19100247
13.

Insights into complexity of congenital disorders of glycosylation.

Goreta SS, Dabelic S, Dumic J.

Biochem Med (Zagreb). 2012;22(2):156-70. Review.

14.

Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.

Mills K, Mills P, Jackson M, Worthington V, Beesley C, Mann A, Clayton P, Grunewald S, Keir G, Young L, Langridge J, Mian N, Winchester B.

Proteomics. 2006 Apr;6(7):2295-304.

PMID:
16552784
15.

The diagnosis of hereditary fructose intolerance.

Steinmann B, Gitzelmann R.

Helv Paediatr Acta. 1981 Sep;36(4):297-316.

PMID:
6268573
16.

Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance.

Moraitou M, Dimitriou E, Mavridou I, Michelakakis H, Georgouli H, Ploski R, Pollak A.

Clin Chim Acta. 2012 Oct 9;413(19-20):1714-5. doi: 10.1016/j.cca.2012.06.010. No abstract available.

PMID:
22713622
17.

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.

Wopereis S, Grünewald S, Huijben KM, Morava E, Mollicone R, van Engelen BG, Lefeber DJ, Wevers RA.

Clin Chem. 2007 Feb;53(2):180-7.

18.

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

Jaeken J, Pirard M, Adamowicz M, Pronicka E, van Schaftingen E.

Pediatr Res. 1996 Nov;40(5):764-6.

PMID:
8910943
19.

[Hereditary fructose intolerance (HFI) as cause of isolated gamma GT rise in a 5-year old boy with hepatomegaly].

Wössmann W, Wiemann J, Körber F, Gortner L.

Klin Padiatr. 2000 May-Jun;212(3):108-9. German.

PMID:
10916780
20.

Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis.

Quintana E, Gala S, García-Cazorla A, Montero R, Muñoz-Almagro C, Vilaseca MA, Briones P, Artuch R.

J Inherit Metab Dis. 2007 Apr;30(2):267.

PMID:
17372855
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