-
1
-
-
0038238795
-
Western blotting with diaminobenzidinadetection for the diagnosis of congenital disorders ofglycosilation
-
ArtuchR, FerrerI, PinedoJet al(2003)Western blotting with diaminobenzidinadetection for the diagnosis of congenital disorders ofglycosilation. J Neurosci Methods125:167–171
-
(2003)
J Neurosci Methods
, vol.125
, pp. 167-171
-
-
Artuch, R.1
Ferrer, I.2
Pinedo, J.3
-
2
-
-
35548993300
-
Laboratory diagnosis ofcongenital disorders of glycosylation type I by analysis of transferringglycoforms
-
Babovic-VuksanovicD, O’BrienJ(2007)Laboratory diagnosis ofcongenital disorders of glycosylation type I by analysis of transferringglycoforms. MolDiagnTher11:303–311
-
(2007)
Moldiagnther
, vol.11
, pp. 303-311
-
-
Babovic-Vuksanovic, D.1
O’Brien, J.2
-
3
-
-
66149125985
-
Mass spectrometry in thecharacterization of human genetic N-glycosylation defects
-
BaroneR, SturialeL, GarozzoD(2009)Mass spectrometry in thecharacterization of human genetic N-glycosylation defects. MassSpectrom Rev28:517–542
-
(2009)
Massspectrom Rev
, vol.28
, pp. 517-542
-
-
Barone, R.1
Sturiale, L.2
Garozzo, D.3
-
4
-
-
77955057089
-
SRD5A3 is required forconverting polyprenol to dolichol and is mutated in a congenitalglycosylation disorder
-
CantagrelV, LefeberD, NgBGet al(2010)SRD5A3 is required forconverting polyprenol to dolichol and is mutated in a congenitalglycosylation disorder. Cell142(2):203–17
-
(2010)
Cell
, vol.142
, Issue.2
, pp. 203-217
-
-
Cantagrel, V.1
Lefeber, D.2
Ng, B.G.3
-
5
-
-
45449097469
-
Congenital disorders of glycosylation (CDG)
-
de LonlayP, ValayannopoulosV, DupréT, Vuillaumier-BarrotS, SetaN(2008)Congenital disorders of glycosylation (CDG). Arch Pediatr15:602–5
-
(2008)
Arch Pediatr
, vol.15
, pp. 602-605
-
-
De Lonlay, P.1
Valayannopoulos, V.2
Dupré, T.3
Vuillaumier-Barrot, S.4
Seta, N.5
-
6
-
-
23244441565
-
Congenitaldisorder of glycosylation type Id: Clinical phenotype, molecular analysis,prenatal diagnosis, and glycosylation of fetal proteins
-
DeneckeJ, KranzC, Von Kleist-RetzowJet al(2005)Congenitaldisorder of glycosylation type Id: clinical phenotype, molecular analysis,prenatal diagnosis, and glycosylation of fetal proteins. PediatrRes2:248–253
-
(2005)
Pediatrres
, vol.2
, pp. 248-253
-
-
Denecke, J.1
Kranz, C.2
Von Kleist-Retzow, J.3
-
7
-
-
28844467101
-
Congenital disorder of glycosylation (CDG)-Ih patient witha severe hepato-intestinal phenotype and evolving central nervoussystem pathology
-
EklundEA, SunL, WestphalV, NorthropJL, FreezeHH, ScagliaF(2005)Congenital disorder of glycosylation (CDG)-Ih patient witha severe hepato-intestinal phenotype and evolving central nervoussystem pathology. J Pediatr147:847–850
-
(2005)
J Pediatr
, vol.147
, pp. 847-850
-
-
Eklund, E.A.1
Sun, L.2
Westphal, V.3
Northrop, J.L.4
Freeze, H.H.5
Scaglia, F.6
-
8
-
-
26444456180
-
Application of mass spectrometry inproteomics
-
GuerreraI, KleinerO(2005)Application of mass spectrometry inproteomics. Biosci Rep25:71–93
-
(2005)
Biosci Rep
, vol.25
, pp. 71-93
-
-
Guerrera, I.1
Kleiner, O.2
-
9
-
-
0242267940
-
Improved HPLC methodfor carbohydrate-deficient transferrin in serum
-
HelanderA, HusaA, JeppssonJ(2003)Improved HPLC methodfor carbohydrate-deficient transferrin in serum. ClinChem49:1881–1890
-
(2003)
Clinchem
, vol.49
, pp. 1881-1890
-
-
Helander, A.1
Husa, A.2
Jeppsson, J.3
-
10
-
-
0038042511
-
Congenital disorders of glycosilation (CDG): It’s all init!
-
JaekenJ(2003)Congenital disorders of glycosilation (CDG): it’s all init!J Inherit Metab Dis26:99–118
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 99-118
-
-
Jaeken, J.1
-
11
-
-
0000249979
-
Familial psychomotor retardationwith markedly fluctuating serum prolactin, FSH and GH levels,partial TBG deficiency, increased serum arylsulphatase A andincreased CSF protein: A new syndrome?
-
JaekenJ, Vanderschueren-LodeweyckxM, CasaerP, SnoeckLCL,EggermontE, EeckelsR(1980)Familial psychomotor retardationwith markedly fluctuating serum prolactin, FSH and GH levels,partial TBG deficiency, increased serum arylsulphatase A andincreased CSF protein: a new syndrome?Pediatr Res14:179
-
(1980)
Pediatr Res
, vol.14
-
-
Jaeken, J.1
Vanderschueren-Lodeweyckx, M.2
Casaer, P.S.3
Cleggermont, E.4
Eeckels, R.5
-
12
-
-
0021686784
-
Sialic acid-deficient serum and cerebrospinal fluid transferinin a newly reconized genetic syndrome
-
JaekenJ, van EijkHG, van der HeulC, CorbeelL, EeckelsR, EggermontE(1984)Sialic acid-deficient serum and cerebrospinal fluid transferinin a newly reconized genetic syndrome. ClinChimActa144:245–7
-
(1984)
Clinchimacta
, vol.144
, pp. 245-247
-
-
Jaeken, J.1
Van Eijk, H.G.2
Van Der Heul, C.3
Corbeel, L.4
Eeckels, R.5
Eggermont, E.6
-
15
-
-
78650045637
-
Next generationsequencing in a family with autosomal recessive Kahrizi syndrome(OMIM 612713) reveals a homozygous frameshift mutation inSRD5A3
-
KahriziK, Hao HuC, GarshasbiMet al(2011)Next generationsequencing in a family with autosomal recessive Kahrizi syndrome(OMIM 612713) reveals a homozygous frameshift mutation inSRD5A3. Eur J Hum Genet19:115–117
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 115-117
-
-
Kahrizi, K.1
Hao Hu, C.2
Garshasbi, M.3
-
16
-
-
1542344374
-
Congenital disorder ofglycosylation type Ik (CDG-Ik): A defect of mannosyltransferase I
-
KranzC, DeneckeJ, LehleLet al(2004)Congenital disorder ofglycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.Am J Hum Genet74:545–551
-
(2004)
Am J Hum Genet
, vol.74
, pp. 545-551
-
-
Kranz, C.1
Denecke, J.2
Lehle, L.3
-
17
-
-
67649584051
-
Deficiency of Dol-P-Mansynthase subunit DPM3 bridges the congenital disorders of glycosylationwith the dystroglycanopathies
-
LefeberD, SchonbergJ, MoravaEet al(2009)Deficiency of Dol-P-Mansynthase subunit DPM3 bridges the congenital disorders of glycosylationwith the dystroglycanopathies. Am J Hum Genet85:76–86
-
(2009)
Am J Hum Genet
, vol.85
, pp. 76-86
-
-
Lefeber, D.1
Schonberg, J.2
Morava, E.3
-
18
-
-
34548487272
-
Screening and diagnosis of congenitaldisorders of glycosylation
-
Marklova´E, AlbahriZ(2007)Screening and diagnosis of congenitaldisorders of glycosylation. ClinChimActa385:6–20
-
(2007)
Clinchimacta
, vol.385
, pp. 6-20
-
-
Marklova´, E.1
Albahri, Z.2
-
19
-
-
0031005847
-
Mutations in a phosphomannomutasegene, PMM2, on chromosome 16 in carbohydrate-deficientglycoprotein type I syndrome (Jaeken syndrome)
-
erratum: Nat Genet 16:316
-
MatthijsG, SchollenE, PardonE, Veiga-da-CunhaM, JaekenJ,CassimanJ-J, Van SchaftingenE(1997)Mutations in a phosphomannomutasegene, PMM2, on chromosome 16 in carbohydrate-deficientglycoprotein type I syndrome (Jaeken syndrome). Nat Genet16:88–92,erratum: Nat Genet 16:316
-
(1997)
Nat Genet
, vol.16
, pp. 88-92
-
-
Matthijs, G.1
Schollen, E.2
Pardon, E.3
Veiga-Da-Cunha, M.4
Jaeken, J.5
Cassiman, J.-J.6
Van Schaftingen, E.7
-
20
-
-
0031981557
-
Lack of homocygotes for the most frequent disease allelein carbohydrate-deficient glycoprotein syndrome type 1A
-
MatthijsG, SchollenE, Van SchaftingenE, CassimanJJ, JaekenJ(1998)Lack of homocygotes for the most frequent disease allelein carbohydrate-deficient glycoprotein syndrome type 1A. Am JHum Genet62:542–550
-
(1998)
Am Jhum Genet
, vol.62
, pp. 542-550
-
-
Matthijs, G.1
Schollen, E.2
Van Schaftingen, E.3
Cassiman, J.J.4
Jaeken, J.5
-
21
-
-
34548319491
-
Apreviously undescribed form of congenital disorder of glycosylationwith variable presentation in siblings: Early fetal loss with hydropsfetalis, and infant death with hypoproteinemia
-
McKenzieF, FietzM, FletcherJ, SmithR, WrightM, JaekenJ(2007)Apreviously undescribed form of congenital disorder of glycosylationwith variable presentation in siblings: early fetal loss with hydropsfetalis, and infant death with hypoproteinemia. Am J Med Genet A143A:2029–2034
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2029-2034
-
-
McKenzie, F.1
Fietz, M.2
Fletcher, J.3
Smith, R.4
Wright, M.5
Jaeken, J.6
-
22
-
-
45849130527
-
Congenital disorder ofglycosylation type Ix: Review of clinical spectrum and diagnosticsteps
-
MoravaE, WosikH, KartesziJet al(2008)Congenital disorder ofglycosylation type Ix: review of clinical spectrum and diagnosticsteps. J Inherit Metab Dis31:450–456
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 450-456
-
-
Morava, E.1
Wosik, H.2
Karteszi, J.3
-
23
-
-
60949099654
-
Screeningfor congenital disorders of glycosylation (CDG): TransferrinHPLC versus isoelectric focusing (IEF)
-
QuintanaE, Navarro-SastreA, Hernandez-PerezJet al(2009)Screeningfor congenital disorders of glycosylation (CDG): transferrinHPLC versus isoelectric focusing (IEF).ClinBiochem42:408–15
-
(2009)
Clinbiochem
, vol.42
, pp. 408-415
-
-
Quintana, E.1
Navarro-Sastre, A.2
Hernandez-Perez, J.3
-
24
-
-
10644231762
-
Challenges in mass spectrometry-based proteomics
-
ReindersJ, LewandrowskiU, MoebiusJ, WagnerY, SickmannA(2004)Challenges in mass spectrometry-based proteomics.Proteomics4:3686–3703
-
(2004)
Proteomics
, vol.4
, pp. 3686-3703
-
-
Reinders, J.1
Lewandrowski, U.2
Moebius, J.3
Wagner, Y.4
Sickmann, A.5
-
25
-
-
0033856148
-
Genomic organizationof the human phosphomannoseisomerase (MPI) gene and mutationanalysis in patients with congenital disorders of glycosylation typeIb (CDG-Ib)
-
SchollenE, DorlandL, de KoningTet al(2000)Genomic organizationof the human phosphomannoseisomerase (MPI) gene and mutationanalysis in patients with congenital disorders of glycosylation typeIb (CDG-Ib). Hum Mutat16:247–252
-
(2000)
Hum Mutat
, vol.16
, pp. 247-252
-
-
Schollen, E.1
Dorland, L.2
De Koning, T.3
-
26
-
-
3142758519
-
Clinical and molecularfeatures of three patients with congenital disorders of glycosylationtype Ih (CDG-Ih) (ALG8 deficiency)
-
SchollenE, FrankC, KeldermansLet al(2004)Clinical and molecularfeatures of three patients with congenital disorders of glycosylationtype Ih (CDG-Ih) (ALG8 deficiency). J Med Genet41:550–556
-
(2004)
J Med Genet
, vol.41
, pp. 550-556
-
-
Schollen, E.1
Frank, C.2
Keldermans, L.3
-
27
-
-
0025138544
-
Carbohydrate deficient serum transferrin in anew systemic hereditary syndrome
-
StiblerH, JaekenJ(1990)Carbohydrate deficient serum transferrin in anew systemic hereditary syndrome. Arch Dis Child65:107–111
-
(1990)
Arch Dis Child
, vol.65
, pp. 107-111
-
-
Stibler, H.1
Jaeken, J.2
-
28
-
-
25844445924
-
Hypoglycosylation withincreased fucosylation and branching of serum transferrin N-glycansin untratedgalactosemia
-
SturialeL, BaroneR, FuimaraAet al(2005)Hypoglycosylation withincreased fucosylation and branching of serum transferrin N-glycansin untratedgalactosemia. Glycobiology15:1268–76
-
(2005)
Glycobiology
, vol.15
, pp. 1268-1276
-
-
Sturiale, L.1
Barone, R.2
Fuimara, A.3
-
29
-
-
53549110284
-
Multiplexed glycoproteomicanalysis of glycosylation disorders by sequential yolk immunoglobulinsimmunoseparation and MALDI-TOF MS
-
SturialeL, BaroneR, PalmigianoAet al(2008)Multiplexed glycoproteomicanalysis of glycosylation disorders by sequential yolk immunoglobulinsimmunoseparation and MALDI-TOF MS. Proteomics8:3822–32
-
(2008)
Proteomics
, vol.8
, pp. 3822-3832
-
-
Sturiale, L.1
Barone, R.2
Palmigiano, A.3
-
30
-
-
0037590885
-
Anew type of congenital disorders of glycosylation (CDG Ii) providesnew insights into the early steps of dolichol-linked oligosaccharidebiosynthesis
-
ThielC, SchwarzM, PengJ, GrzmilM, HasilikM, BraulkeT(2003)Anew type of congenital disorders of glycosylation (CDG Ii) providesnew insights into the early steps of dolichol-linked oligosaccharidebiosynthesis. J BiolChem278:22498–22505
-
(2003)
J Biolchem
, vol.278
, pp. 22498-22505
-
-
Thiel, C.1
Schwarz, M.2
Peng, J.3
Grzmil, M.4
Hasilik, M.5
Braulke, T.6
-
31
-
-
0029585865
-
Phosphomannomutase deficiency isa cause of carbohydrate-deficient glycoprotein syndrome type I
-
vanSchaftingenE, JaekenJ(1995)Phosphomannomutase deficiency isa cause of carbohydrate-deficient glycoprotein syndrome type I.FEBS Lett377:318–320
-
(1995)
FEBS Lett
, vol.377
, pp. 318-320
-
-
Vanschaftingen, E.1
Jaeken, J.2
-
32
-
-
0041591139
-
Deficiency of UDP-GlcNAc:Dolichol phosphate N-acetylglucosamine-1 phosphate transferase(DPAGT1) causes a novel congenital disorder of glycosylationtype Ij
-
WuX, RushJS, KaraogluDet al(2003)Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase(DPAGT1) causes a novel congenital disorder of glycosylationtype Ij. Hum Mutat2:144–50
-
(2003)
Hum Mutat
, vol.2
, pp. 144-150
-
-
Wu, X.1
Rush, J.S.2
Karaoglu, D.3
|