Results 251 to 260 of about 37,742 (346)

EARLY SIGNS OF THIAMINE DEFICIENCY

Journal of Nutritional Science and Vitaminology, 1976
openaire   +4 more sources

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

, 2014
Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vézina, Uta Lichter‐Konecki, Kristina Cusmano‐Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand   +10 more
openalex   +1 more source

A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal ...
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş, Tamer Çelik, Esra Sarıgeçili, Habibe Koç Uçar   +6 more
wiley   +1 more source

Retrospective Case Series of Fulminant Metabolic Crisis in GSDIA: Persistent Lactic Acidosis Despite Correction of Hypoglycemia May Reflect Secondary Mitochondrial Dysfunction

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Although several advances in glycogen storage disorder (GSD) management have been made over the years, there is still increased morbidity and mortality in these patients, particularly among those with GSD type I (GSDI). Here, we describe a case series of five patients with GSDIa who presented with severe lactic acidosis and passed away without
Herodes Guzman, Nicole Stewart, Lauren Mitteer, Victoria Sanders, Rebecca Ganetzky, Diva D. De Leon   +5 more
wiley   +1 more source

Thiamine Deficiency Neuropathy in a Patient with Malnutrition due to Melancholic Depression. [PDF]

Case Rep Psychiatry
Melki R, Ben Soussia R, Mrabet HE, Bouali W, Zarrouk L.   +4 more
europepmc   +1 more source

Thiamine Deficiency in Cambodian Infants

, 2020
Lauren Gallivan
openalex   +1 more source

Thiamine deficiency as a differential diagnosis for severe fatigue in terminally ill cancer patients [PDF]

Hideki Onishi, Hiroko Sato, Nozomu Uchida, Akira Yoshioka, Izumi Sato, Nobuyuki Onizawa, Hiroshi Ito, M. Ishida   +7 more
openalex   +1 more source

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well‐documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12‐year‐old child with cblB disorder who developed acute cardiomyopathy (CM).
Dalia Said, Aisha Al Shamsi
wiley   +1 more source

The Management of Parkinson's Disease Before, during and after Pregnancy—an MDS Scientific Issues Committee Review

Movement Disorders Clinical Practice, Volume 13, Issue 1, Page 44-59, January 2026.
Abstract Background Pregnancy after a Parkinson's diagnosis presents complex challenges. Due to the paucity of literature, there is no evidence‐based guidelines and protocols for preconception care, management of pregnancy, childbirth and the postpartum period in women with early‐onset Parkinson's disease (PD).
Alexander C. Lehn, Jee‐Young Lee, Giorgia Sciacca, Stacy Patterson, Adam Morton, Paul Pun, Walaa A. Kamel, Marina Picillo, Bart Post, Eng‐King Tan, Tamine Capato, Bastiaan R. Bloem, Manon Auffret, Annelien M. Oosterbaan, Willanka Kapelle, Michiko K. Bruno, Lorraine V. Kalia, Jeffrey H. Kordower, Daniela Berg   +18 more
wiley   +1 more source

Comparison of Metformin PBPK Models Incorporating Placental Transfer to Predict Fetal and Maternal Exposure

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 1, January 2026.
ABSTRACT Physiologically based pharmacokinetic (PBPK) modeling of placental drug transfer is an evolving tool for predicting fetal drug exposure. In this study, a pregnancy‐specific metformin PBPK model was developed, and the following four approaches were evaluated to predict metformin placental transfer: (1) perfusion‐limited model, and permeability ...
Jacqueline B. Tiley, Mattie E. Hartauer, Tajhia L. Whigham, Maïlys De Sousa Mendes, Kim L. R. Brouwer, Mary F. Hebert   +5 more
wiley   +1 more source