scholarly journals FABRY DISEASE, FAMILY CASE REPORT

2019 ◽  
Author(s):  
LIZETH CHAPARRO DEL PORTILLO ◽  
JÚLIA YONESHIGUE LARANJA DE OLIVEIRA ◽  
HANY KELLY ARAUJO CRUZ ◽  
BRUNO BORDALO CORRÊA ◽  
VIVIAN MABEL ORSI DORADO ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Family Case ◽  
Disease Family

Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

Female child with Fabry disease and two other genetic diseases, spherocytosis, and congenital hypothyroidism, A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S24
Author(s):  
Magdalena Cerón-Rodriguez ◽  
Daniela Castillo-García ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Patricia Baeza-Capetillo ◽  
Jesús Aguirre-Hernández
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Congenital Hypothyroidism ◽  
Genetic Diseases ◽  
Female Child

scholarly journals A Family Case Report ofSchistosoma haematobiumInfection in Italian Travelers

1995 ◽  
Vol 2 (3) ◽  
pp. 193-195 ◽  
Author(s):  
Annibale Raglio ◽  
Maurizio Parea ◽  
Vailati Francesca ◽  
Antonio Goglio
Keyword(s):  
Case Report ◽  
Family Case

scholarly journals Fabry disease: A case report and algorithmic approach to angiokeratomas

TURKDERM ◽  
2014 ◽  
Vol 48 (S2) ◽  
pp. 97-100 ◽  
Author(s):  
Aslı Aksu Çerman ◽  
Janset Erkul Arıcı ◽  
İlknur Kıvanç Altunay ◽  
Cuyan Demirkesen ◽  
Nihal Aslı Küçükünal
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Algorithmic Approach

scholarly journals Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Martina Siracusano ◽  
Assia Riccioni ◽  
Antonia Baratta ◽  
Maurizia Baldi ◽  
Paolo Curatolo ◽  
...  
Keyword(s):  
Case Report ◽  
Greig Cephalopolysyndactyly Syndrome ◽  
Family Case ◽  
Autistic Symptoms

scholarly journals Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Filippo Pinto e Vairo ◽  
Pavel N. Pichurin ◽  
Fernando C. Fervenza ◽  
Samih H. Nasr ◽  
Kevin Mills ◽  
...  
Keyword(s):  
Case Report ◽  
Renal Disease ◽  
Fabry Disease ◽  
Kidney Biopsy
Sign in / Sign up

Export Citation Format

Share Document