Results 121 to 130 of about 1,586 (183)

Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases. [PDF]

J Clin Med
Baglioni V, Bozza F, Lentini G, Beatrice A, Cameli N, Colacino Cinnante EM, Terrinoni A, Nardecchia F, Pisani F.   +8 more
europepmc   +1 more source

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

Protein Nitration in Patients with Mitochondrial Diseases. [PDF]

Antioxidants (Basel)
Livramento JB, Rodrigues GS, Faber J, de Souza Filho LA, Moura FV, Barros CDS, Pinto WBVR, Schmidt B, Oliveira ASB, Kiyomoto BH, Tengan CH.   +10 more
europepmc   +1 more source

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A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

Clinical Neurology and Neurosurgery, 2023
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a well-known mitochondrial depletion syndrome. Since Van Goethem et al. described MNGIE syndrome with pathogenic POLG1 mutations in 2003, POLG1 gene became a target for MNGIE patients.
Tuğçe Aksu Uzunhan, Biray Erturk, Mey Talip Petmezci   +2 more
exaly   +2 more sources

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE)

Practical Neurology, 2020
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive condition. Deficiency of thymidine phosphorylase disrupts the nucleoside pool, with progressive secondary mitochondrial DNA damage.
S. Hammans
semanticscholar   +3 more sources

POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype.

Clinical Neurology and Neurosurgery, 2023
J. Finsterer
semanticscholar   +3 more sources

Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes.

Clinical Neurology and Neurosurgery, 2023
[Abstract Not Available]
C. Altuntaş, T. A. Uzunhan, Biray Ertürk, Mey Talip Petmezci, N. Çakar, Bilge Noyan, A. Dokucu, H. Önal   +7 more
semanticscholar   +4 more sources

Treating MNGIE

Neurology, 2006
Neurons, myocytes, and other highly oxidative cells are critically dependent upon the production of adenosine triphosphate by the mitochondrial respiratory chain. Although mitochondria contain multiple copies of their own genome (mtDNA), which codes for 13 essential respiratory chain proteins and 24 ribonucleic acids required for intra-mitochondrial ...
Patrick F. Chinnery, John Vissing
openaire   +1 more source

A Novel Mutation in an MNGIE Patient Presenting with More Prominent Neurological Symptoms than GI Symptoms

Neurology India, 2023
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disease associated with the mutation of the TYMP gene. MNGIE causes gastrointestinal and neurological symptoms, and the gastrointestinal symptoms are usually notable ...
Xiaoyan Chen, Xiao-Yi Xiong, Shu Liu, Chunmei Duan, Rui Xu, Qingwu Yang   +5 more
semanticscholar   +1 more source

Phenotypic variability in a Spanish family with MNGIE

Neurology, 2002
Clinical, biochemical, and genetic features of a Spanish family with mitochondrial neurogastrointestinal encephalomyopathy are reported. The proband presented with severe gastrointestinal dysmotility and the affected sister had extraocular muscle weakness.
J, Gamez, C, Ferreiro, M L, Accarino, L, Guarner, S, Tadesse, R A, Martí, A L, Andreu, N, Raguer, C, Cervera, M, Hirano   +9 more
openaire   +2 more sources