Results 121 to 130 of about 4,864,231 (177)

Congenital CD59 Deficiency-A Novel Cause of Relapsing-Remitting Polyneuropathy. [PDF]

Ann Indian Acad Neurol
Cornelius LP, Livingston J, Elango N.
europepmc   +1 more source

Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation. [PDF]

Int Dent J
Kantaputra PN, Apivatthakakul A, Kaewgahya M, Tongsima S, Ngamphiw C, Sastraruji T, Sukantamala P, Carlson BM, Kawasaki K, Ketudat Cairns JR, Sonsuwan N, Ohazama A.   +11 more
europepmc   +1 more source

Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review. [PDF]

BMC Pediatr
Su J, Tao Y, Zhang L, Luo J.
europepmc   +1 more source

Refsum disease

, 2015
Wanders, Ronald JA, Waterham, Hans R, Leroy, Bart   +2 more
openaire   +1 more source

Distribution of Vitamin B12 Absorption in a Community and Factors Associated with the Response to Long-term Oral Supplementation

Yajnik C, Rush E, Bhat D, Wagh R, Deshmukh O, Ladkat R, Plank L, Bandopadhyay S, Fall C, Refsum H, Deshmukh U.   +10 more
europepmc   +1 more source

Plasma homocysteine as a risk factor for vascular disease: the European concerted action project

, 1997
GRAHAM IM, DALY LE, REFSUM HM, ROBINSON K, ANDRIA, GENEROSO   +4 more
core  

Multi-Omics Modelling of Plasma pTau181, GFAP, and Metabolic Features Enables Risk Stratification in Prodromal Alzheimer’s Disease

Kacerova T, Miller JJ, Radford-Smith DE, Smith SM, Jeans AF, Jernerén F, Shepherd D, Pires E, de Jel S, Gong Q, Schiffer E, Montoliu-Gaya L, Ashton NJ, Olsen T, Leppert D, Zetterberg H, Refsum H, McCullagh JSO, Smith AD, Anthony DC.   +19 more
europepmc   +1 more source

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Peroxisomal functions in classical Refsum's disease: Comparison with the infantile form of Refsum's disease

Journal of the Neurological Sciences, 1988
The infantile and classical forms of Refsum's disease are generally considered to belong to the newly recognized group of peroxisomal disorders. In this study we carried out a detailed investigation into different peroxisomal functions in classical Refsum's disease by analyses of plasma (very long chain fatty acids, di- and trihydroxycoprostanoic acid ...
Wanders, R. J., Heymans, H. S., Schutgens, R. B., Poll-Thé, B. T., Saudubray, J. M., Tager, J. M., Schrakamp, G., van den Bosch, H.   +7 more
openaire   +4 more sources

Cochlear implantation in Refsum's disease

Cochlear Implants International, 2008
Refsum's disease is a rare disorder characterized by accumulation of phytanic acid in plasma and tissues. The main clinical features are retinitis pigmentosa, cerebellar ataxia and chronic polyneuropathy. Sensorineural hearing loss of varying severity can be an additional feature.
C H, Raine, M F, Kurukulasuriya, Y, Bajaj, D R, Strachan   +3 more
openaire   +4 more sources

Refsum’s Disease and Cochlear Implantation

Annals of Otology, Rhinology & Laryngology, 2014
Objectives: The objective was to describe a case of bilateral cochlear implantation in a 59-year-old man with hearing and visual impairment due to Refsum’s disease. Method: A retrospective case review was performed.
Claudia, Nogueira, Thomasina, Meehan, Gerard, O'Donoghue   +2 more
openaire   +4 more sources