scholarly journals New mutation in Fabry disease: c.448delG, first phenotypic description

2021 ◽  
Vol 27 ◽  
pp. 100708
Author(s):  
Esteban Calabrese ◽  
Guillermo Rodriguez Botta ◽  
Dra Paula Rosenfeld
Keyword(s):  
Fabry Disease ◽  
New Mutation

scholarly journals Description of a new mutation in a female patient with Fabry disease

2011 ◽  
Vol 30 (10) ◽  
pp. 789-793
Author(s):  
Emanuel Correia ◽  
Joana Vidinha ◽  
Bruno Rodrigues ◽  
Luís Santos ◽  
Davide Moreira ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Female Patient ◽  
New Mutation

scholarly journals A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

2017 ◽  
Vol 4 (1) ◽  
Author(s):  
Yasutsugu Chinen ◽  
Sadao Nakamura ◽  
Tomohide Yoshida ◽  
Hiroki Maruyama ◽  
Kimitoshi Nakamura
Keyword(s):  
Newborn Screening ◽  
Fabry Disease ◽  
New Mutation

FABRY DISEASE: A NEW MUTATION WITH PHENOTYPIC CORRELATION?

2011 ◽  
Vol 22 ◽  
pp. S7-S8
Author(s):  
Ana Arévalo Gómez ◽  
Susana Rivera García ◽  
Roberto Barriales Vila ◽  
Lorenzo Monserrat Iglesias
Keyword(s):  
Fabry Disease ◽  
Phenotypic Correlation ◽  
New Mutation

scholarly journals Fabry disease: Two females with predominant and important cardiac involvement. New mutation for cardiac variant?

2022 ◽  
Vol 14 (1) ◽  
pp. 42
Author(s):  
N. Laraba ◽  
F. Menzou ◽  
S. Moulay ◽  
M.I. Bendimerad ◽  
K. Abbaci-Deghor ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Cardiac Involvement ◽  
New Mutation

scholarly journals FP166P.G35V A NEW MUTATION AND EARLY RENAL MANIFESTATIONS IN FABRY DISEASE

2015 ◽  
Vol 30 (suppl_3) ◽  
pp. iii122-iii122
Author(s):  
Thiago Lacerda Ataides ◽  
Valeria SP Veloso ◽  
Edna Regina S Pereira ◽  
Mauri F de Souza ◽  
Talita CM e Cunha ◽  
...  
Keyword(s):  
Fabry Disease ◽  
New Mutation

Fabry disease, differential diagnosis or coexistence with multiple sclerosis? A new mutation identified

2020 ◽  
Vol 129 (2) ◽  
pp. S37
Author(s):  
Alejandra Camacho-Molina ◽  
Nancy Monroy Jaramillo ◽  
Yerye Gibrán Mayén Lobo ◽  
Katiuzka Casares-Cruz ◽  
Marisol Molina-Medina ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Fabry Disease ◽  
New Mutation

New mutation in TSC1-gene in a sporadic case with initially mild phenotype

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
C Thiels ◽  
C Köhler ◽  
K Weigt-Usinger ◽  
C Sutter ◽  
T Lücke
Keyword(s):  
Sporadic Case ◽  
New Mutation ◽  
Mild Phenotype ◽  
Tsc1 Gene

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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