Results 51 to 60 of about 41,340 (258)
ReportsBackground and Clinical Significance: When lactate production surpasses the body’s clearance capacity, hyperlactatemia (lactate ≥ 2 mmol/L) or lactic acidosis (lactate ≥ 4 mmol/L) can develop.
Wing Fai Li +4 more
doaj +1 more source
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
Metformin associated lactic acidosis
, 2019 This resource is a database of published case reports of metformin associated lactic acidosis. The database comprises of demographic and clinical data extracted from each identified case of metformin associated lactic acidosis, including: article details,
Stephen Duffull (6660085) +4 more
core +1 more source
International Journal of Endocrinology, 2014 Objective. To clarify the link between metformin accumulation and its metabolic consequences by taking the time frame for metformin measurement into account. Research Design and Methods.
Jean-Daniel Lalau, Farshad Kajbaf
doaj +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Acidosis láctica asociada a metformina
, 2021 Lactic acidosis is an adverse reaction related to metformin and is the main etiology of metabolic acidosis. An annual incidence of lacticacidosis of 4.3 cases per 100 000 users of this drug has been reported, which is a considerable amount considering ...
Vallejos Narváez, Alvaro +5 more
core
In-vitro activation of complement system by lactic acidosis in newborn and adults
Mediators of Inflammation, 2001 Introduction: Complement activation occurs secondary to a variety of external stimuli. Lactic acidosis has been previously shown to activate the complement factors C3a and C5a.
Friederike Hecke +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
The Pan African Medical Journal, 2019 Metformin is a commonly used treatment modality in type 2 diabetes mellitus with lactic acidosis as a rare but life-threatening side effect. In this case report we highlight the importance of recognizing this uncommon side effect and the treatment ...
Khaled Elmezughi, Chukwuma Ekpebegh
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source