Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation

Quintana, Ester; Montero, Raquel; Casado, Mercedes; Navarro-Sastre, Aleix; Vilaseca, M. A.; Briones, Paz; Artuch, Rafael

doi:10.1016/j.jchromb.2009.06.031

Cited by 21 publications

(20 citation statements)

References 11 publications

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“…Neuraminidase cleaves the sialic acid residues located at the end of the two branched carbohydrate structures of Tf and thus influences the electrophoretic mobility and pI of the Tf molecule. Desialylation of serum Tf with neuraminidase was employed to study the progress of this process [27][28][29]144], to prepare standards of asialo-Tf [25,71,117], to characterize the progress of desialylation of a human Tf standard by CIEF [52], and to simplify the identification of genetic variants of Tf [32,147]. The data presented in Fig.…”

Section: Genetic Variants Of Tfmentioning

confidence: 99%

“…CDG syndromes are diagnosed in sera of newborns, infants, and children using mainly gel IEF [14,16]. HPLC [5,14] and CZE [15,65,67,94,133,[147][148][149][150][151] assays were reported as screening methodologies for CDG by several laboratories. The popularity of these techniques is increasing.…”

Section: Other Applications and Special Aspects Of Tf Isoform Analysismentioning

confidence: 99%

“…2C were obtained with the HR-CEofix assay. Other laboratories employed the CEofix assay [15,147,150], the CAPPILARYS assay [149,151], and laboratory-made assays [67,94,148]. One group used CE-ESI-MS to identify glycoforms [94,148].…”

Section: Other Applications and Special Aspects Of Tf Isoform Analysismentioning

confidence: 99%

“…A transient peak arising between asialoand disialo-Tf in the sequential cleavage experiments is presumably monosialo-Tf [29]. Furthermore, the decay and final patterns observed were found to be dependent on the neuraminidase product used [27][28][29]32,144,147]. Based on these data, it can be concluded that the standards of asialo-Tf prepared by desialylation with neuraminidase [25,71,117] are not identical to asialo-Tf found in serum of an alcohol abuser.…”

Section: Other Applications and Special Aspects Of Tf Isoform Analysismentioning

confidence: 99%

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Monitoring of transferrin isoforms in biological samples by capillary electrophoresis

Caslavska

Thormann

2017

J of Separation Science

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Work dealing with the monitoring of transferrin isoforms in human serum and other body fluids by capillary electrophoresis is reviewed. It comprises capillary zone electrophoresis and capillary isoelectric focusing efforts that led to the exploration and use of assays for the determination of carbohydrate‐deficient transferrin as a marker for excessive alcohol intake, genetic variants of transferrin, congenital disorders of glycosylation and β‐2‐transferrin, which is a marker for cerebrospinal fluid leakage. This paper provides insight into the development, specifications, strengths, weaknesses, and routine use of the currently known capillary electrophoresis based assays suitable to detect transferrin isoforms in body fluids. The achievements reached so far indicate that capillary zone electrophoresis is an attractive technology to monitor the molecular forms of transferrin in biological specimens as the assays do not require an elaborate sample pretreatment and thus can be fully automated for high‐throughput analyses on multicapillary instruments. Assays based on capillary isoelectric focusing are less attractive. They require immunoextraction of transferrin from the biological matrix and mobilization after focusing if instrumentation with a whole‐column imaging detector is not available. Interactions of the carrier ampholytes with the iron of transferrin may prevent iron saturation and thus provide more complicated isoform patterns.

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Section: Genetic Variants Of Tfmentioning

confidence: 99%

Section: Other Applications and Special Aspects Of Tf Isoform Analysismentioning

confidence: 99%

Section: Other Applications and Special Aspects Of Tf Isoform Analysismentioning

confidence: 99%

Section: Other Applications and Special Aspects Of Tf Isoform Analysismentioning

confidence: 99%

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Monitoring of transferrin isoforms in biological samples by capillary electrophoresis

Caslavska

Thormann

2017

J of Separation Science

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“…However, it is important to recognize other clinical conditions that can lead to an abnormal Tf glycosylation pattern including polymorphisms within the Tf gene [4,5], rare hereditable deficiency in the glycosylation enzymes [6][7][8], hereditary fructose intolerance and galactosemia [9] and some other clinical conditions that are apparently unrelated to excessive alcohol consumption [10][11][12].…”

Section: Introductionmentioning

confidence: 99%

First evaluation of a multi-capillary electrophoresis CDT assay on Helena Biosciences' V8 analyser

Marinova

Artusi

Baggio

et al. 2014

Clinical Biochemistry

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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Martinez‐Monseny¹,

Bolasell²,

Callejón‐Póo³

et al. 2019

Annals of Neurology

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Objective: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested. Impairment in N-glycosylation of CaV2.1 promotes gain-of-function effects and may participate in cerebellar syndrome in PMM2-CDG. AZATAX was designed to establish whether acetazolamide is safe and improves cerebellar syndrome in PMM2-CDG. Methods: A clinical trial included PMM2-CDG patients, with a 6-month first-phase single acetazolamide therapy group, followed by a randomized 5-week withdrawal phase. Safety was assessed. The primary outcome measure was improvement in the International Cooperative Ataxia Rating Scale (ICARS). Other measures were the Nijmegen Pediatric CDG Rating Scale (NPCRS), a syllable repetition test (PATA test), and cognitive scores. Results: Twenty-four patients (mean age = 12.3 AE 4.5 years) were included, showing no serious adverse events. Thirteen patients required dose adjustment due to low bicarbonate or asthenia. There were improvements on ICARS (34.9 AE 23.2 vs 40.7 AE 24.8, effect size = 1.48, 95% confidence interval [CI] = 4.0-7.6, p < 0.001), detected at 6 weeks in 18 patients among the 20 responders, on NPCRS (95% CI = 0.3-1.6, p = 0.013) and on the PATA test (95% CI = 0.5-3.0, p = 0.006). Acetazolamide improved prothrombin time, factor X, and antithrombin. Clinical severity, epilepsy, and lipodystrophy predicted greater response. The randomized withdrawal phase showed ICARS worsening in the withdrawal group (effect size = 1.46, 95% CI = 2.65-7.52, p = 0.001). Interpretation: AZATAX is the first clinical trial of PMM2-CDG. Acetazolamide is well tolerated and effective for motor cerebellar syndrome. Its ability to prevent SLEs and its long-term effects on kidney function should be addressed in future studies. ANN NEUROL 2019;85:740-751 View this article online at wileyonlinelibrary.com.

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Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation

Cited by 21 publications

References 11 publications

Monitoring of transferrin isoforms in biological samples by capillary electrophoresis

Monitoring of transferrin isoforms in biological samples by capillary electrophoresis

First evaluation of a multi-capillary electrophoresis CDT assay on Helena Biosciences' V8 analyser

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

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