Literature DB >> 34999987

Infantile nephrotic syndrome, immunodeficiency and adrenal insufficiency-a rare cause: Answers.

Georgie Mathew1, M S Yasmeen2, R V Deepthi3, Meenakshi Swain4, Avinash Vattam2, Mehul A Shah2, Indira Agarwal3.   

Abstract

Entities:  

Keywords:  Monogenic nephrotic syndrome; SPLIS; Sphingosine-1-phosphate lyase deficiency syndrome

Year:  2022        PMID： 34999987     DOI： 10.1007/s00467-021-05377-1

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.651


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  10 in total

1.  Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Authors:  Andreas R Janecke; Ruijuan Xu; Elisabeth Steichen-Gersdorf; Siegfried Waldegger; Andreas Entenmann; Thomas Giner; Iris Krainer; Lukas A Huber; Michael W Hess; Yaacov Frishberg; Hila Barash; Shay Tzur; Nira Schreyer-Shafir; Rivka Sukenik-Halevy; Tania Zehavi; Annick Raas-Rothschild; Cungui Mao; Thomas Müller
Journal:  Hum Mutat       Date:  2017-03-06       Impact factor: 4.878

2.  Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

Authors:  Derek Atkinson; Jelena Nikodinovic Glumac; Bob Asselbergh; Biljana Ermanoska; David Blocquel; Regula Steiner; Alejandro Estrada-Cuzcano; Kristien Peeters; Tinne Ooms; Els De Vriendt; Xiang-Lei Yang; Thorsten Hornemann; Vedrana Milic Rasic; Albena Jordanova
Journal:  Neurology       Date:  2017-01-11       Impact factor: 9.910

3.  Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Authors:  Svjetlana Lovric; Sara Goncalves; Heon Yung Gee; Babak Oskouian; Honnappa Srinivas; Won-Il Choi; Shirlee Shril; Shazia Ashraf; Weizhen Tan; Jia Rao; Merlin Airik; David Schapiro; Daniela A Braun; Carolin E Sadowski; Eugen Widmeier; Tilman Jobst-Schwan; Johanna Magdalena Schmidt; Vladimir Girik; Guido Capitani; Jung H Suh; Noëlle Lachaussée; Christelle Arrondel; Julie Patat; Olivier Gribouval; Monica Furlano; Olivia Boyer; Alain Schmitt; Vincent Vuiblet; Seema Hashmi; Rainer Wilcken; Francois P Bernier; A Micheil Innes; Jillian S Parboosingh; Ryan E Lamont; Julian P Midgley; Nicola Wright; Jacek Majewski; Martin Zenker; Franz Schaefer; Navina Kuss; Johann Greil; Thomas Giese; Klaus Schwarz; Vilain Catheline; Denny Schanze; Ingolf Franke; Yves Sznajer; Anne S Truant; Brigitte Adams; Julie Désir; Ronald Biemann; York Pei; Elisabet Ars; Nuria Lloberas; Alvaro Madrid; Vikas R Dharnidharka; Anne M Connolly; Marcia C Willing; Megan A Cooper; Richard P Lifton; Matias Simons; Howard Riezman; Corinne Antignac; Julie D Saba; Friedhelm Hildebrandt
Journal:  J Clin Invest       Date:  2017-02-06       Impact factor: 14.808

4.  MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.

Authors:  K W Martin; N Weaver; K Alhasan; E Gumus; B R Sullivan; M Zenker; F Hildebrandt; J D Saba
Journal:  AJNR Am J Neuroradiol       Date:  2020-08-27       Impact factor: 3.825

5.  Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.

Authors:  Piming Zhao; Isaac D Liu; Jeffrey B Hodgin; Peter I Benke; Jeremy Selva; Federico Torta; Markus R Wenk; James A Endrizzi; Olivia West; Weixing Ou; Emily Tang; Denise Li-Meng Goh; Stacey Kiat-Hong Tay; Hui-Kim Yap; Alwin Loh; Nicole Weaver; Bonnie Sullivan; Austin Larson; Megan A Cooper; Khalid Alhasan; Abdullah A Alangari; Suha Salim; Evren Gumus; Karin Chen; Martin Zenker; Friedhelm Hildebrandt; Julie D Saba
Journal:  J Inherit Metab Dis       Date:  2020-05-04       Impact factor: 4.982

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

Authors:  Rathi Prasad; Irene Hadjidemetriou; Avinaash Maharaj; Eirini Meimaridou; Federica Buonocore; Moin Saleem; Jenny Hurcombe; Agnieszka Bierzynska; Eliana Barbagelata; Ignacio Bergadá; Hamilton Cassinelli; Urmi Das; Ruth Krone; Bulent Hacihamdioglu; Erkan Sari; Ediz Yesilkaya; Helen L Storr; Maria Clemente; Monica Fernandez-Cancio; Nuria Camats; Nanik Ram; John C Achermann; Paul P Van Veldhoven; Leonardo Guasti; Debora Braslavsky; Tulay Guran; Louise A Metherell
Journal:  J Clin Invest       Date:  2017-02-06       Impact factor: 14.808

8.  Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.

Authors:  Natália Duarte Linhares; Rodrigo Rezende Arantes; Stanley Almeida Araujo; Sergio D J Pena
Journal:  Clin Kidney J       Date:  2017-11-13

9.  A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.

Authors:  Avinaash Maharaj; Demetria Theodorou; Indraneel Indi Banerjee; Louise A Metherell; Rathi Prasad; Dean Wallace
Journal:  Front Pediatr       Date:  2020-04-08       Impact factor: 3.418

10.  Disarranged Sphingolipid Metabolism From Sphingosine-1-Phosphate Lyase Deficiency Leads to Congenital Nephrotic Syndrome.

Authors:  Veronica A Taylor; Hillarey K Stone; Meredith P Schuh; Xueheng Zhao; Kenneth D Setchell; Elif Erkan
Journal:  Kidney Int Rep       Date:  2019-08-07
  10 in total
  1 in total

1.  A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature.

Authors:  Tugba Tastemel Ozturk; Nur Canpolat; Seha Saygili; Umut Selda Bayrakci; Oguz Soylemezoglu; Fatih Ozaltin; Rezan Topaloglu
Journal:  Pediatr Nephrol       Date:  2022-06-24       Impact factor: 3.714
  1 in total

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