Results 191 to 200 of about 233,323 (358)

Long‐term clinical trajectory of microvillus inclusion disease associated with STXBP2‐related familial hemophagocytic lymphohistiocytosis type 5: A case report

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Familial hemophagocytic lymphohistiocytosis type 5 is caused by biallelic pathogenic variants in STXBP2, which encodes syntaxin‐binding protein, a key regulator of vesicle trafficking. In addition to immune dysregulation, patients with familial hemophagocytic lymphohistiocytosis type 5 may present with severe, persistent diarrhea associated ...
Hiroyuki Tanaka, Mariko Sekiguchi, Yuko Kajiho, Tetsuo Ushiku, Jun Fujishiro, Motohiro Kato   +5 more
wiley   +1 more source

Intracellular lactic acidosis reprograms glycolysis and mitochondrial anaplerosis in cancer cells. [PDF]

J Biol Chem
Jin C, Zeng S, Wu H, Hu X.
europepmc   +1 more source

Lactic acidosis

Kidney International, 1986
openaire   +2 more sources

Therapeutic‐dose verapamil‐induced cardiogenic shock in an older patient: a case report

Journal of Pharmacy Practice and Research, EarlyView.
Abstract Background Calcium channel blocker (CCB) toxicity most commonly follows deliberate overdose. However, severe toxicity at therapeutic doses may occur in susceptible individuals. Severe CCB toxicity often presents with clinical features of bradycardia, hypotension, hyperglycaemia, and lactic acidosis.
Christopher Thuring, Maria Carey, Timothy Webber, Biswadev Mitra   +3 more
wiley   +1 more source

Distal Renal Tubular Acidosis as a Renal Manifestation of Sjögren's Syndrome: A Case Report. [PDF]

Cureus
Sharma S, Khalid A, Herrera GA, Al Jaber E.   +3 more
europepmc   +1 more source

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent—Case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher, John Hicks, Krupa R. Mysore   +2 more
wiley   +1 more source

Tracheal intubation in the critically ill: beyond the airway, toward hemodynamic precision. [PDF]

J Intensive Care
Prakash J, Veenith T, Priye S, Choudhuri B.   +3 more
europepmc   +1 more source

Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent

JPGN Reports, EarlyView.
Abstract Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13‐year‐old female with chronic abdominal pain, short stature, and persistent mild transaminitis.
Alexandra Hurlock, Melissa Lah, Hannah Sue Hyaduck, Jean P. Molleston, Chaowapong Jarasvaraparn   +4 more
wiley   +1 more source

Sphingosine-1-Phosphate Promotes FOS Activation in Osteosarcoma Under Tumor Acidosis. [PDF]

Acta Physiol (Oxf)
Bozzini N, Cortini M, Righi A, Grigoriadis AE, Dack M, Ilieva E, Torricelli F, Manicardi V, Baldini N, Avnet S.   +9 more
europepmc   +1 more source

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review. [PDF]

Clin Case Rep
Rehman T, Saeed R, Rauf MAA, Asif L, Junaid M, Khalid M, Ali RN, Ali U, Segawa F.   +8 more
europepmc   +1 more source