Literature DB >> 7887246

Optimized separation and quantitation of serum and cerebrospinal fluid transferrin subfractions defined by differences in iron saturation or glycan composition.

G de Jong1, W L van Noort, H G van Eijk.   

Abstract

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Year:  1994        PMID： 7887246     DOI： 10.1007/978-1-4615-2554-7_6

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  10 in total

1.  High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Authors:  S Grünewald; E Schollen; E Van Schaftingen; J Jaeken; G Matthijs
Journal:  Am J Hum Genet       Date:  2001-01-11       Impact factor: 11.025

2.  A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Authors:  Eva Morava; Ron A Wevers; Vincent Cantagrel; Lies H Hoefsloot; Lihadh Al-Gazali; Jeroen Schoots; Arno van Rooij; Karin Huijben; Connie M A van Ravenswaaij-Arts; Marjolein C J Jongmans; Jolanta Sykut-Cegielska; Georg F Hoffmann; Peter Bluemel; Maciej Adamowicz; Jeroen van Reeuwijk; Bobby G Ng; Jorieke E H Bergman; Hans van Bokhoven; Christian Körner; Dusica Babovic-Vuksanovic; Michel A Willemsen; Joseph G Gleeson; Ludwig Lehle; Arjan P M de Brouwer; Dirk J Lefeber
Journal:  Brain       Date:  2010-09-17       Impact factor: 13.501

3.  SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Authors:  Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P De Brouwer; Peter Blümel; Jolanta Sykut-Cegielska; Scott Houliston; Dominika Swistun; Bassam R Ali; William B Dobyns; Dusica Babovic-Vuksanovic; Hans van Bokhoven; Ron A Wevers; Christian R H Raetz; Hudson H Freeze; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
Journal:  Cell       Date:  2010-07-15       Impact factor: 41.582

4.  A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.

Authors:  Zafar Iqbal; Mohsin Shahzad; Lisenka E L M Vissers; Monique van Scherpenzeel; Christian Gilissen; Attia Razzaq; Muhammad Yasir Zahoor; Shaheen N Khan; Tjitske Kleefstra; Joris A Veltman; Arjan P M de Brouwer; Dirk J Lefeber; Hans van Bokhoven; Sheikh Riazuddin
Journal:  Eur J Hum Genet       Date:  2012-12-19       Impact factor: 4.246

5.  Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.

Authors:  Moniek Riemersma; Mark R Hazebroek; Appolonia T J M Helderman-van den Enden; Gajja S Salomons; Sacha Ferdinandusse; Martijn C G J Brouwers; Liesbeth van der Ploeg; Stephane Heymans; Jan F C Glatz; Arthur van den Wijngaard; Ingrid P C Krapels; Jörgen Bierau; Han G Brunner
Journal:  Eur J Hum Genet       Date:  2017-08-30       Impact factor: 4.246

6.  Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

Authors:  Dirk J Lefeber; Johannes Schönberger; Eva Morava; Mailys Guillard; Karin M Huyben; Kiek Verrijp; Olga Grafakou; Athanasios Evangeliou; Frank W Preijers; Panagiota Manta; Jef Yildiz; Stephanie Grünewald; Martha Spilioti; Christa van den Elzen; Dominique Klein; Daniel Hess; Hisashi Ashida; Jan Hofsteenge; Yusuke Maeda; Lambert van den Heuvel; Martin Lammens; Ludwig Lehle; Ron A Wevers
Journal:  Am J Hum Genet       Date:  2009-07-02       Impact factor: 11.025

7.  Multiple phenotypes in phosphoglucomutase 1 deficiency.

Authors:  Laura C Tegtmeyer; Stephan Rust; Monique van Scherpenzeel; Bobby G Ng; Marie-Estelle Losfeld; Sharita Timal; Kimiyo Raymond; Ping He; Mie Ichikawa; Joris Veltman; Karin Huijben; Yoon S Shin; Vandana Sharma; Maciej Adamowicz; Martin Lammens; Janine Reunert; Anika Witten; Esther Schrapers; Gert Matthijs; Jaak Jaeken; Daisy Rymen; Tanya Stojkovic; Pascal Laforêt; François Petit; Olivier Aumaître; Elzbieta Czarnowska; Monique Piraud; Teodor Podskarbi; Charles A Stanley; Reuben Matalon; Patricie Burda; Soraya Seyyedi; Volker Debus; Piotr Socha; Jolanta Sykut-Cegielska; Francjan van Spronsen; Linda de Meirleir; Pietro Vajro; Terry DeClue; Can Ficicioglu; Yoshinao Wada; Ron A Wevers; Dieter Vanderschaeghe; Nico Callewaert; Ralph Fingerhut; Emile van Schaftingen; Hudson H Freeze; Eva Morava; Dirk J Lefeber; Thorsten Marquardt
Journal:  N Engl J Med       Date:  2014-02-06       Impact factor: 91.245

8.  Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Authors:  Dirk J Lefeber; Arjan P M de Brouwer; Eva Morava; Moniek Riemersma; Janneke H M Schuurs-Hoeijmakers; Birgit Absmanner; Kiek Verrijp; Willem M R van den Akker; Karin Huijben; Gerry Steenbergen; Jeroen van Reeuwijk; Adam Jozwiak; Nili Zucker; Avraham Lorber; Martin Lammens; Carlos Knopf; Hans van Bokhoven; Stephanie Grünewald; Ludwig Lehle; Livia Kapusta; Hanna Mandel; Ron A Wevers
Journal:  PLoS Genet       Date:  2011-12-29       Impact factor: 5.917

9.  Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.

Authors:  Marjolein A W van den Boogert; Cleo L Crunelle; Lubna Ali; Lars E Larsen; Sacha D Kuil; Johannes H M Levels; Alinda W M Schimmel; Vassiliki Konstantopoulou; Maryse Guerin; Jan Albert Kuivenhoven; Geesje M Dallinga-Thie; Erik S G Stroes; Dirk J Lefeber; Adriaan G Holleboom
Journal:  J Inherit Metab Dis       Date:  2019-12-29       Impact factor: 4.982

10.  A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

Authors:  Walinka van Tol; Angel Ashikov; Eckhard Korsch; Nurulamin Abu Bakar; Michèl A Willemsen; Christian Thiel; Dirk J Lefeber
Journal:  JIMD Rep       Date:  2019-09-30
  10 in total

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