Results 111 to 120 of about 5,374 (184)

MELAS syndrome: an acute stroke-like episode complicated by renal tubular acidosis. [PDF]

BMJ Case Rep, 2021
Ni Cathain D, Browne E, Skehan K, Boyle K.   +3 more
europepmc   +1 more source

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation [PDF]

Pathogenic point mutations in the mitochondrial MTND1 gene have previously been described in association with two distinct clinical phenotypes - Leber hereditary optic neuropathy (LHON) and mitochondrial myopathy, encephalopathy, lactic acidosis and ...
Dawidek G, Blakely EL, de Silva R, Taylor RW, Harrower T, Turnbull DM, Schwarzer V, King A   +7 more
core  

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report. [PDF]

J Med Case Rep, 2022
Alenezi AF, Almelahi MA, Fekih-Romdhana F, Jahrami HA.   +3 more
europepmc   +1 more source

MELAS Syndrome: An Update

Primary Health Care Open Access, 2017
Mingzheng Aaron Goh, Shiva Dindyal
openaire   +1 more source

Exploring Cardiac Memory in hiPSC-derived cardioids: the cardiac side of MELAS syndrome [PDF]

Metabolic diseases have an incidence of 0.5% in newborns and can lead to dramatic dysfunction in high energy-demanding organs, with the heart representing an illustrative example.
BURATTINI
core  

MELAS Syndrome Presenting with Hypertrophic Cardiomyopathy and Advanced Heart Failure: A Multisystem Diagnostic Challenge. [PDF]

J Clin Med
Dodulík J, Lazárová M, Kapsová E, Václavík J.   +3 more
europepmc   +1 more source

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in pregnancy. [PDF]

BMJ Case Rep, 2021
Balachandran Nair D, Bloomfield M, Parasuraman R, Howe DT.   +3 more
europepmc   +1 more source

From confusion to diagnosis: a rare case of melas syndrome in a patient with familial consanguinity, recurrent stroke-like episodes, and concurrent FSGS. [PDF]

BMC Neurol
Mohsen M, Juma S, Saleh D, Saleh T, Amayra A, Atrash J.   +5 more
europepmc   +1 more source

Fahr Syndrome, Hypoparathyroidism and Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. [PDF]

AACE Endocrinol Diabetes
Li J, Wang X, Guo Y, Wang W, Wu S, Sun J.   +5 more
europepmc   +1 more source

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. [PDF]

J Neurol, 2021
Chakrabarty S, Govindaraj P, Sankaran BP, Nagappa M, Kabekkodu SP, Jayaram P, Mallya S, Deepha S, Ponmalar JNJ, Arivinda HR, Meena AK, Jha RK, Sinha S, Gayathri N, Taly AB, Thangaraj K, Satyamoorthy K.   +16 more
europepmc   +1 more source