Literature DB >> 12002145

DOOR syndrome: report of three additional cases.

Têmis Maria Félix1, Simone de Menezes Karam, Valter Augusto Della Rosa, Ana Maria S Machado Moraes.   

Abstract

Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has organic acid abnormalities and they can therefore be classified as Type II.

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Year:  2002        PMID： 12002145     DOI： 10.1097/00019605-200204000-00012

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  3 in total

1.  A new case of DOOR syndrome.

Authors:  Marzena Wiśniewska; Zofia Siwińska; Michał Felczak; Tomasz Wielkoszyński; Maciej Krawczyński; Anna Latos-Bieleńska
Journal:  J Appl Genet       Date:  2008       Impact factor: 3.240

2.  Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Authors:  Yoshiko Murakami; Thi Tuyet Mai Nguyen; Nissan Baratang; Praveen K Raju; Alexej Knaus; Sian Ellard; Gabriela Jones; Baiba Lace; Justine Rousseau; Norbert Fonya Ajeawung; Atsushi Kamei; Gaku Minase; Manami Akasaka; Nami Araya; Eriko Koshimizu; Jenneke van den Ende; Florian Erger; Janine Altmüller; Zita Krumina; Jurgis Strautmanis; Inna Inashkina; Janis Stavusis; Areeg El-Gharbawy; Jessica Sebastian; Ratna Dua Puri; Samarth Kulshrestha; Ishwar C Verma; Esther M Maier; Tobias B Haack; Anil Israni; Julia Baptista; Adam Gunning; Jill A Rosenfeld; Pengfei Liu; Marieke Joosten; María Eugenia Rocha; Mais O Hashem; Hesham M Aldhalaan; Fowzan S Alkuraya; Satoko Miyatake; Naomichi Matsumoto; Peter M Krawitz; Elsa Rossignol; Taroh Kinoshita; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2019-06-27       Impact factor: 11.025

3.  Doors Syndrome: Case Report.

Authors:  Dua Cebeci; Didem Rıfkı
Journal:  Indian J Dermatol       Date:  2022 Mar-Apr       Impact factor: 1.757
  3 in total

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