Literature DB >> 9516683

ALAD porphyria.

S Sassa1.   

Abstract

ALAD porphyria is an autosomal recessive disorder resulting from a homozygous aminolevulinic acid dehydratase (ALAD) deficiency. Because of an almost complete lack of ALAD activity, patients excrete a large amount of ALA, but not PBG, into urine. The symptoms in this disease are similar to those seen in AIP, but ALAD porphyria can be differentiated from AIP by its autosomal recessive, rather than dominant, inheritance, by the lack of PBG overproduction, and by markedly decreased ALAD activity.

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Year:  1998        PMID: 9516683     DOI: 10.1055/s-2007-1007145

Source DB:  PubMed          Journal:  Semin Liver Dis        ISSN: 0272-8087            Impact factor:   6.115


  14 in total

1.  Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyria.

Authors:  U Gross; S Sassa; T Arndt; M O Doss
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

Review 2.  ACP Best Practice No 165: front line tests for the investigation of suspected porphyria.

Authors:  A C Deacon; G H Elder
Journal:  J Clin Pathol       Date:  2001-07       Impact factor: 3.411

3.  The porphyrias: pathophysiology.

Authors:  Antonello Pietrangelo
Journal:  Intern Emerg Med       Date:  2010-10       Impact factor: 3.397

4.  ALAD porphyria is a conformational disease.

Authors:  Eileen K Jaffe; Linda Stith
Journal:  Am J Hum Genet       Date:  2006-12-21       Impact factor: 11.025

5.  The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine.

Authors:  Paolo Ventura; Maria Domenica Cappellini; Emilio Rocchi
Journal:  Intern Emerg Med       Date:  2009-05-29       Impact factor: 3.397

Review 6.  Heme biosynthesis and the porphyrias.

Authors:  John D Phillips
Journal:  Mol Genet Metab       Date:  2019-04-22       Impact factor: 4.797

7.  Evaluation of Delta-Aminolevulinic Dehydratase Activity, Oxidative Stress Biomarkers, and Vitamin D Levels in Patients with Multiple Sclerosis.

Authors:  Carla Roberta Nunes Polachini; Roselia Maria Spanevello; Daniela Zanini; Jucimara Baldissarelli; Luciane Belmonte Pereira; Maria Rosa Chitolina Schetinger; Ivana Beatrice Mânica da Cruz; Charles Elias Assmann; Margarete Dulce Bagatini; Vera Maria Morsch
Journal:  Neurotox Res       Date:  2015-12-21       Impact factor: 3.911

Review 8.  Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Authors:  Vaithamanithi-Mudumbai Sadagopa Ramanujam; Karl Elmo Anderson
Journal:  Curr Protoc Hum Genet       Date:  2015-07-01

Review 9.  Acute Intermittent Porphyria in children: A case report and review of the literature.

Authors:  Manisha Balwani; Preeti Singh; Anju Seth; Ekta Malik Debnath; Hetanshi Naik; Dana Doheny; Brenden Chen; Makiko Yasuda; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2016-10-15       Impact factor: 4.797

Review 10.  Erythropoietic and hepatic porphyrias.

Authors:  U Gross; G F Hoffmann; M O Doss
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

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