Literature DB >> 8687180

Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.

P Luzi1, M A Rafi, D A Wenger.   

Abstract

A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms, and two unique mutations.

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Year:  1996        PMID： 8687180     DOI： 10.1002/ana.410400119

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  15 in total

1.  Peripheral neuropathy in late-onset Krabbe disease: report of three cases.

Authors:  A Malandrini; C D'Eramo; S Palmeri; C Gaudiano; S Gambelli; F Sicurelli; G Berti; P Formichi; A Kuqo; M T Dotti; A Federico
Journal:  Neurol Sci       Date:  2012-01-25       Impact factor: 3.307

Review 2.  Newborn screening for Krabbe's disease.

Authors:  Joseph J Orsini; Carlos A Saavedra-Matiz; Michael H Gelb; Michele Caggana
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

3.  Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.

Authors:  Yi-Hong Shao; Karine Choquet; Roberta La Piana; Martine Tétreault; Marie-Josée Dicaire; Kym M Boycott; Jacek Majewski; Bernard Brais
Journal:  Neurogenetics       Date:  2016-02-26       Impact factor: 2.660

Review 4.  Krabbe Disease in the Arab World.

Authors:  Hatem Zayed
Journal:  J Pediatr Genet       Date:  2015-03

5.  The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

Authors:  Evangelia Dimitriou; Monica Cozar; Irene Mavridou; Daniel Grinberg; Lluïsa Vilageliu; Helen Michelakakis
Journal:  JIMD Rep       Date:  2015-06-25

6.  Molecular heterogeneity of Krabbe disease.

Authors:  L Fu; K Inui; T Nishigaki; N Tatsumi; H Tsukamoto; C Kokubu; T Muramatsu; S Okada
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

7.  Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Authors:  Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá
Journal:  J Assist Reprod Genet       Date:  2022-01-29       Impact factor: 3.412

8.  Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

Authors:  Rabab Debs; Roseline Froissart; Patrick Aubourg; Caroline Papeix; Claire Douillard; Bertrand Degos; Bertrand Fontaine; Bertrand Audoin; Arnaud Lacour; Gérard Said; Marie T Vanier; Frédéric Sedel
Journal:  J Inherit Metab Dis       Date:  2012-11-30       Impact factor: 4.982

9.  Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.

Authors:  Daesung Shin; M Laura Feltri; Lawrence Wrabetz
Journal:  J Neurosci       Date:  2016-02-10       Impact factor: 6.167

10.  Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Authors:  Joseph J Orsini; Denise M Kay; Carlos A Saavedra-Matiz; David A Wenger; Patricia K Duffner; Richard W Erbe; Chad Biski; Monica Martin; Lea M Krein; Matthew Nichols; Joanne Kurtzberg; Maria L Escolar; Darius J Adams; Georgianne L Arnold; Alejandro Iglesias; Patricia Galvin-Parton; David F Kronn; Jennifer M Kwon; Paul A Levy; Joan E Pellegrino; Natasha Shur; Melissa P Wasserstein; Michele Caggana
Journal:  Genet Med       Date:  2016-01-21       Impact factor: 8.822
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