Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Paul D. Larsen
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
Related publications
Unilateral Pityriasis Rosea in a Child: A Rare Clinical Presentation
Turkish Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2
PLoS ONE
Multidisciplinary
Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient With Compound Heterozygote Mutations of theMEFVGene
Gut and Liver
Hepatology
Gastroenterology
Clinical and Radiological Presentation of a Child With Progressive Pseudorheumatoid Dysplasia
Pediatric Rheumatology
Immunology
Pediatrics
Rheumatology
Allergy
Perinatology
Child Health
Aortic Xanthomatosis With Coronary Ostial Occlusion in a Child Homozygous for a Nonsense Mutation in ABCG8
Circulation
Cardiovascular Medicine
Physiology
Cardiology
A Rare Clinical Presentation of Cholangiocarcinoma
Case Reports in Gastrointestinal Medicine
Scoliosis in Friedreich’s Ataxia
Canadian Journal of Neurological Sciences
Medicine
Neurology
A Six-Month Phosphatidylcholine Trial in Friedreich’s Ataxia
Canadian Journal of Neurological Sciences
Medicine
Neurology
A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia With Novel Mutation
Pediatric Gastroenterology, Hepatology and Nutrition
Child Health
Hepatology
Pediatrics
Perinatology
Gastroenterology
