scholarly journals Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene

2013 ◽  
Vol 54 (6) ◽  
pp. 579-584 ◽  
Author(s):  
Vesna Stojanović ◽  
Johannes A. Mayr ◽  
Wolfgang Sperl ◽  
Nenad Barišić ◽  
Aleksandra Doronjski ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Novel Mutation ◽  
Proximal Tubulopathy

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism

2016 ◽  
Vol 263 (11) ◽  
pp. 2188-2195 ◽  
Author(s):  
Laura Kytövuori ◽  
Joonas Lipponen ◽  
Harri Rusanen ◽  
Tuomas Komulainen ◽  
Mika H. Martikainen ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Peripheral Neuropathy ◽  
Novel Mutation ◽  
Hypergonadotropic Hypogonadism

A novel mutation of porphyria variegate with predominant painful sensorimotor peripheral neuropathy disclosed by post gastric by-pass complications: A case report

2021 ◽  
Vol 429 ◽  
pp. 119367
Author(s):  
Edwige Collaud ◽  
Luis Wittwer ◽  
Joelle Chabwine ◽  
Jean-Marie Annoni ◽  
Anna-Elisabeth Minder ◽  
...  
Keyword(s):  
Case Report ◽  
Peripheral Neuropathy ◽  
Novel Mutation ◽  
Gastric By Pass

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy

2004 ◽  
Vol 27 (6) ◽  
pp. 778-780 ◽  
Author(s):  
N. Makhseed ◽  
H.D. Vallance ◽  
M. Potter ◽  
P.J. Waters ◽  
L.T.K. Wong ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Novel Mutation ◽  
Carnitine Transporter ◽  
Slc22a5 Gene

31. Sensory peripheral neuropathy in a novel mutation of FLVCR1

2016 ◽  
Vol 127 (4) ◽  
pp. e140
Author(s):  
S. Pro ◽  
M. De Luca ◽  
R. Miliucci ◽  
B. Alessandri ◽  
M. Di Capua
Keyword(s):  
Peripheral Neuropathy ◽  
Novel Mutation ◽  
Sensory Peripheral Neuropathy

A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency

2002 ◽  
Vol 17 (3) ◽  
pp. 233-236 ◽  
Author(s):  
Claudio Bruno ◽  
Roberta Biancheri ◽  
Barbara Garavaglia ◽  
Claudia Biedi ◽  
Andrea Rossi ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Novel Mutation ◽  
Oxidase Deficiency ◽  
Leigh Disease ◽  
Cytochrome C Oxidase Deficiency
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