Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child With a Rare Nonsense Mutation and Comparison With Previously Published Cases

Case Reports in Neurological Medicine
doi 10.1155/2018/8587203
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Hindawi Limited

Related search

Unilateral Pityriasis Rosea in a Child: A Rare Clinical Presentation

Turkish Journal of Pediatrics
Child HealthPediatricsPerinatology
2017English

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2

PLoS ONE
Multidisciplinary
2013English

Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient With Compound Heterozygote Mutations of theMEFVGene

Gut and Liver
HepatologyGastroenterology
2013English

Clinical and Radiological Presentation of a Child With Progressive Pseudorheumatoid Dysplasia

Pediatric Rheumatology
ImmunologyPediatricsRheumatologyAllergyPerinatologyChild Health
2014English

Aortic Xanthomatosis With Coronary Ostial Occlusion in a Child Homozygous for a Nonsense Mutation in ABCG8

Circulation
Cardiovascular MedicinePhysiologyCardiology
2003English

A Rare Clinical Presentation of Cholangiocarcinoma

Case Reports in Gastrointestinal Medicine
2017English

Scoliosis in Friedreich’s Ataxia

Canadian Journal of Neurological Sciences
MedicineNeurology
1982English

A Six-Month Phosphatidylcholine Trial in Friedreich’s Ataxia

Canadian Journal of Neurological Sciences
MedicineNeurology
1982English

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia With Novel Mutation

Pediatric Gastroenterology, Hepatology and Nutrition
Child HealthHepatologyPediatricsPerinatologyGastroenterology
2017English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy