Results 151 to 160 of about 215,605 (258)

Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Elena Martín‐Hernández, Delia Barrio‐Carreras, María Martín‐Cazaña, Luis Miguel García‐Cárdaba, Carmen Martín‐Fernández, Patricia Pérez‐Mohand, Teresa Hernández Chamorro, Berta Zamora Crespo, Pedro Ruiz‐Sala, Patricia Alcaide Alonso, Pilar Quijada‐Fraile   +10 more
wiley   +1 more source

Severe Alcohol-Associated Lactic Acidosis Presenting With Extreme Hyperlactataemia: A Case Report. [PDF]

Cureus
Wijayasuriya Arachchige MW, Tun KT, Angulugaha Gamage CMA, Elsahy T.   +3 more
europepmc   +1 more source

The Lactic Acidosis Syndromes [PDF]

Diabetes, 1963
openaire   +2 more sources

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

JPGN Reports, Volume 7, Issue 4, Page 582-584, November 2026.
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

Neonatal Lactic Acidosis Associated With Antiretroviral Exposure: A Case Report. [PDF]

Cureus
Mercado J, Rivera L, Droz López A, Poventud Y, Andino-Colón C.   +4 more
europepmc   +1 more source

Protein Lactylation in Cancer: From Mechanisms to Therapy

MedComm, Volume 7, Issue 11, November 2026.
Increased glycolysis and lactate accumulation promote histone and nonhistone protein lactylation, linking tumor metabolic reprogramming to treatment adaptation. Lactylation enhances DNA repair, suppresses antitumor immunity, strengthens antioxidant defenses, and facilitates cell‐cycle checkpoint escape, collectively promoting resistance to chemotherapy,
Wentian Huang, Ping Hu, Shun Wang, Xide Zhang, Ziran Ye, Shengqiang Chen, Fu Gao, Yuanyuan Chen, Yanyong Yang   +8 more
wiley   +1 more source

Acute Confusion as the Presenting Feature of Hypoglycemia and Lactic Acidosis in an Adult With Known Fructose-1,6-Bisphosphatase Deficiency. [PDF]

Cureus
Farah Ahmed M, Benmasbahi EM, Belkouch A, Mounir L, Chouaib N.   +4 more
europepmc   +1 more source

D-lactic acidosis in neonatal ruminants

, 2018
Neonatal ruminantlarda D-laktik asidoz, metabolik asidoza sebep olan ve sıklıkla gözden kaçabilen bir durumdur. D-laktik asidoz ile seyreden hastalıklar hayvan türlerine göre farklı isimlerle adlandırılmıştır.

core  

The Challenges in Investigating and Managing Dyspnoea in a Young Athlete With Asthma and Sickle Cell Trait

Respirology Case Reports, Volume 14, Issue 11, November 2026.
We present the case of a competitive adolescent athlete with asthma and sickle cell trait whose exertional symptoms despite inhaler treatment posed a diagnostic challenge. Although exercise‐induced asthma physiology was detected on cardiopulmonary exercise testing, his overall exercise capacity was appropriate for a highly trained athlete, with no ...
Nicole Niu, Eskandarain Shafuddin
wiley   +1 more source

Severe Lactic Acidosis in Decompensated Cirrhosis Despite Nondiagnostic Imaging. [PDF]

Clin Case Rep
Ganju N, Nwachukwu CV, Santiago-Gonzalez J, Naeem S, Azinge N, Laiyemo AO.   +5 more
europepmc   +1 more source