Literature DB >> 26980089

An unusual cause of hypertension with hematuria and proteinuria: Answers.

Michael B Stokes1,2, Ronald Zviti3,4, Fangming Lin3,5,4, Vivette D D'Agati3,5.   

Abstract

Entities:  

Keywords:  Adolescent; Cobalamin G disorder; Methionine synthase deficiency; Proteinuria; Thrombotic microangiopathy

Mesh：

Year:  2016        PMID： 26980089     DOI： 10.1007/s00467-016-3348-y

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  30 in total

1.  Cobalamin C defect associated with hemolytic-uremic syndrome.

Authors:  M T Geraghty; E J Perlman; L S Martin; S J Hayflick; J F Casella; D S Rosenblatt; D Valle
Journal:  J Pediatr       Date:  1992-06       Impact factor: 4.406

2.  cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.

Authors:  Daniel Palanca; Angels Garcia-Cazorla; Jessica Ortiz; Cristina Jou; Victoria Cusí; Mariona Suñol; Teresa Toll; Belén Perez; Aida Ormazabal; Brian Fowler; Rafael Artuch
Journal:  JIMD Rep       Date:  2012-07-21

3.  Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine.

Authors:  S R Lentz; J E Sadler
Journal:  J Clin Invest       Date:  1991-12       Impact factor: 14.808

4.  Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.

Authors:  Martin Kömhoff; Marcus T Roofthooft; Dineke Westra; Thea K Teertstra; Attilio Losito; Nicole C A J van de Kar; Rolf M F Berger
Journal:  Pediatrics       Date:  2013-07-08       Impact factor: 7.124

5.  Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Authors:  M Huemer; C Bürer; P Ješina; V Kožich; M A Landolt; T Suormala; B Fowler; P Augoustides-Savvopoulou; E Blair; K Brennerova; A Broomfield; L De Meirleir; G Gökcay; J Hennermann; P Jardine; J Koch; S Lorenzl; A S Lotz-Havla; J Noss; R Parini; H Peters; B Plecko; F J Ramos; A Schlune; K Tsiakas; M Zerjav Tansek; M R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2014-12-20       Impact factor: 4.982

Review 6.  A congenital anomaly of vitamin B12 metabolism: a study of three cases.

Authors:  P Russo; J Doyon; E Sonsino; H Ogier; J M Saudubray
Journal:  Hum Pathol       Date:  1992-05       Impact factor: 3.466

7.  Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

Authors:  M A Cosson; J F Benoist; G Touati; M Déchaux; N Royer; L Grandin; J P Jais; N Boddaert; V Barbier; I Desguerre; P M Campeau; D Rabier; V Valayannopoulos; P Niaudet; P de Lonlay
Journal:  Mol Genet Metab       Date:  2009-03-24       Impact factor: 4.797

8.  Hyperhomocysteinemia as a risk factor for deep-vein thrombosis.

Authors:  M den Heijer; T Koster; H J Blom; G M Bos; E Briet; P H Reitsma; J P Vandenbroucke; F R Rosendaal
Journal:  N Engl J Med       Date:  1996-03-21       Impact factor: 91.245

Review 9.  Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

Authors:  Martina Huemer; Sabine Scholl-Bürgi; Karine Hadaya; Ilse Kern; Ronny Beer; Klaus Seppi; Brian Fowler; Matthias R Baumgartner; Daniela Karall
Journal:  Orphanet J Rare Dis       Date:  2014-11-15       Impact factor: 4.123

Review 10.  Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Authors:  Martina Huemer; Viktor Kožich; Piero Rinaldo; Matthias R Baumgartner; Begoña Merinero; Elisabetta Pasquini; Antonia Ribes; Henk J Blom
Journal:  J Inherit Metab Dis       Date:  2015-03-12       Impact factor: 4.982
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  2 in total

1.  Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency.

Authors:  Taylor E Petropoulos; Maria Erika Ramirez; John Granton; Christoph Licht; Rohan John; Yasbanoo Moayedi; Chantal F Morel; Rory F McQuillan
Journal:  Clin Kidney J       Date:  2017-10-26

2.  A child presenting with severe hypertension and circulatory failure-a diagnostic conundrum: Answers.

Authors:  Werner Keenswijk; Patrick Verloo; Johan Vande Walle
Journal:  Pediatr Nephrol       Date:  2017-02-08       Impact factor: 3.714
  2 in total

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