Literature DB >> 4788792

Red cell aldolase deficiency and hemolytic anemia: a new syndrome.

E Beutler, S Scott, A Bishop, N Margolis, F Matsumoto, W Kuhl.   

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Year:  1973        PMID： 4788792

Source DB:  PubMed          Journal:  Trans Assoc Am Physicians        ISSN： 0066-9458


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  14 in total

1.  Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.

Authors:  H Kishi; T Mukai; A Hirono; H Fujii; S Miwa; K Hori
Journal:  Proc Natl Acad Sci U S A       Date:  1987-12       Impact factor: 11.205

2.  Evolutionary implications of the human aldolase-A, -B, -C, and -pseudogene chromosome locations.

Authors:  D R Tolan; J Niclas; B D Bruce; R V Lebo
Journal:  Am J Hum Genet       Date:  1987-11       Impact factor: 11.025

Review 3.  Acute rhabdomyolysis and inflammation.

Authors:  Yamina Hamel; Asmaa Mamoune; François-Xavier Mauvais; Florence Habarou; Laetitia Lallement; Norma Beatriz Romero; Chris Ottolenghi; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2015-03-17       Impact factor: 4.982

Review 4.  Diagnosis of red blood cell enzymopathies in infants, children and adolescents.

Authors:  S P Samuel; T D Miale
Journal:  Indian J Pediatr       Date:  1987 May-Jun       Impact factor: 1.967

5.  Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.

Authors:  Gabriella Esposito; Luigi Vitagliano; Paola Costanzo; Loredana Borrelli; Rita Barone; Lorenzo Pavone; Paola Izzo; Adriana Zagari; Francesco Salvatore
Journal:  Biochem J       Date:  2004-05-15       Impact factor: 3.857

Review 6.  [Enzyme deficiencies in glycolysis and nucleotide metabolism of red blood cells in nonspherocytic hemolytic anemia (author's transl)].

Authors:  H D Waller; H C Benöhr
Journal:  Klin Wochenschr       Date:  1976-09-01

7.  The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.

Authors:  Giuliana Giannuzzi; Paul J Schmidt; Eleonora Porcu; Gilles Willemin; Katherine M Munson; Xander Nuttle; Rachel Earl; Jacqueline Chrast; Kendra Hoekzema; Davide Risso; Katrin Männik; Pasquelena De Nittis; Ethan D Baratz; Yann Herault; Xiang Gao; Caroline C Philpott; Raphael A Bernier; Zoltan Kutalik; Mark D Fleming; Evan E Eichler; Alexandre Reymond
Journal:  Am J Hum Genet       Date:  2019-10-24       Impact factor: 11.025

8.  A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

Authors:  Asmaa Mamoune; Michel Bahuau; Yamina Hamel; Valérie Serre; Michele Pelosi; Florence Habarou; Marie-Ange Nguyen Morel; Bertrand Boisson; Sabrina Vergnaud; Mai Thao Viou; Luc Nonnenmacher; Monique Piraud; Patrick Nusbaum; Joseph Vamecq; Norma Romero; Chris Ottolenghi; Jean-Laurent Casanova; Pascale de Lonlay
Journal:  PLoS Genet       Date:  2014-11-13       Impact factor: 5.917

9.  Structure of a rabbit muscle fructose-1,6-bisphosphate aldolase A dimer variant.

Authors:  Manashi Sherawat; Dean R Tolan; Karen N Allen
Journal:  Acta Crystallogr D Biol Crystallogr       Date:  2008-04-19

10.  Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.

Authors:  Alicia Blaker-Lee; Sunny Gupta; Jasmine M McCammon; Gianluca De Rienzo; Hazel Sive
Journal:  Dis Model Mech       Date:  2012-05-01       Impact factor: 5.758
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