Results 201 to 210 of about 47,919 (265)

Successful management of severe hypoglycemia induced by total parenteral nutrition in patients with hepatocellular injury: Three cases reports. [PDF]

World J Clin Cases
Fang LZ, Jin HX, Zhao N, Wu YP, Shi YQ.
europepmc   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Comprehensive quantification of C4 to C26 free fatty acids using a supercritical fluid chromatography-mass spectrometry method in pharmaceutical-grade egg yolk powders intended for total parenteral nutrition use. [PDF]

Anal Bioanal Chem
Retrato MDC, Nguyen AV, Ubhayasekera SJKA, Bergquist J.   +3 more
europepmc   +1 more source

Long Term Follow‐Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Propionic acidemia (PA) is a rare inherited metabolic disorder associated with recurrent metabolic decompensations and chronic multisystemic complications. Liver transplantation (LT) may improve metabolic stability, but its long‐term impact on organ involvement remains debated.
Tristan Mekdade, Claire‐Marine Bérat, Manuel Schiff, Margaux Gaschignard, Juliette Bouchereau, Jean‐Baptiste Arnoux, Claire Francoz, Aude Servais, Myriam Dao, Vickie Lacroix, Julien Maquet, Apolline Imbard, Edouard Le Guillou, Clément Pontoizeau, Jean‐François Benoist, Mehdi Oualha, Marion Grimaud, Charles de Marcellus, Laurent Sabbah, Claire Mayer, Christophe Chardot, Carmen Capito, Diala Khraiche, Florence Lacaille, Pascale de Lonlay, Anaïs Brassier   +25 more
wiley   +1 more source

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Sustained Treatment Success With Ustekinumab in Symptomatic Stricturing Crohn's Disease: A Retrospective Single‐Arm Observational Cohort Study

MedComm, Volume 7, Issue 7, July 2026.
Data on ustekinumab (UST) for symptomatic stricturing Crohn's disease remain scarce in China. This cohort study screened 73 patients from June 2022 to April 2024, of whom 54 were eligible included, with 81.5% achieving 52‐week treatment success. Most attained sustained clinical remission alongside improved inflammation and strictures. Nonsmoking status
Jingwen Liu, Wen Hu, Shuyan Li, Shurong Hu, Deming Jiang, Yan Chen   +5 more
wiley   +1 more source

Continuous versus intermittent bolus infusion of calcium in preterm infants receiving total parenteral nutrition: a randomized blind clinical trial. [PDF]

BMC Pediatr
Shiva S, Rezazadeh K, Amiraslanzadeh A, Mehramuz B, Yeganehdoost S, Mahallei M.   +5 more
europepmc   +1 more source