Results 161 to 170 of about 38,522 (353)

Selective screening for inborn errors of metabolism-past, present and future [PDF]

, 1994
Gustav Hoffmann
openalex   +1 more source

IMPROVE 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, EarlyView.
ABSTRACT A total of 150 clinicians and researchers representing 19 countries came together in person and online to participate in the highly anticipated 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE), held on 13–15 December 2023 in Paris, France.
Karine Clément, Erica L. T. van den Akker, Jesús Argente, Phil Beales, Metin Cetiner, Béatrice Dubern, Sadaf Farooqi, Aurélie Gouronc, Peter Kühnen, Johanne Le Beyec, Louis Lebreton, David Meeker, Hermann L. Müller, Jean Muller, Christine Poitou, Patrick Sleiman, Christian Vaisse, Martin Wabitsch, Jacques Young, Hélène Dollfus   +19 more
wiley   +1 more source

Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. [PDF]

, 1990
Marie S. Buchmann, E. A. Kvittingen, Hisham M. Nazer, Thirumazhisai S. Gunasekaran, Peter T. Clayton, Jan Sjövall, Ingemar Björkhem   +6 more
openalex   +1 more source

Nutritional Deficiencies Following Bariatric Surgery: A Rapid Systematic Review of Case Reports of Vitamin and Micronutrient Deficiencies Presenting More Than Two Years Post‐Surgery

Clinical Obesity, EarlyView.
ABSTRACT Bariatric surgery is the most clinically‐ and cost‐effective intervention for severe obesity. However, without adequate follow‐up, it can lead to nutritional deficiencies. Patients require life‐long nutritional supplements and follow‐up to prevent nutritional deficiencies from developing.
Sophie Haughton, Sarah Gentry, Helen M. Parretti   +2 more
wiley   +1 more source

Parent-Reported Caregiving Roles of Siblings of Children with Inborn Errors of Metabolism. [PDF]

J Dev Behav Pediatr, 2023
Granovetter MA, Sumrall S, Lea D, Gelles S, Koehly LM.   +4 more
europepmc   +1 more source

Inborn errors of metabolism (IEM) revealed by Reye's syndrome (RS) [PDF]

, 1992
Michaël Fayon
openalex   +1 more source

Tryptophan Suppresses FTH1‐Driven Ferritinophagy, a Key Correlate of Prognosis in Hepatocellular Carcinoma

Cell Proliferation, EarlyView.
Intracellular tryptophan levels modulate selective autophagy of FTH1 via the NCOA4 pathway. This autophagic process then inhibits 6‐HMT synthesis, which then results in an increase in reactive oxygen species and ferroptosis. ABSTRACT Hepatocellular carcinoma (HCC) remains a lethal malignancy with limited therapeutic options.
Xinxiang Cheng, Xin Ge, Chi Zhang, Xingye Yang, Zhengxin Yu, Min Zhang, Wen Cao, Qingtao Ni, Yang Liu, Songbing He, Yin Yuan   +10 more
wiley   +1 more source

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry [PDF]

, 1995
Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall, Douglas Little   +3 more
openalex   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

Cell Proliferation, EarlyView.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far, Marziyeh Akbari, Mohammad Amin Habibi, Morteza Katavand, Sherko Nasseri   +4 more
wiley   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source