Results 111 to 120 of about 2,214,124 (236)

Inborn errors of metabolism

, 2001
Inborn errors of metabolism (IEM) are a group of disorders that causes abnormal function of biochemical pathways. Archibald Garrod des-cribed the first inborn error of metabolism in 1893. He described alkaptonuria in a patient whose urine turned black on
Tuan Norhafizah binti Tuan Zakaria
core  

A 3D Human Bone and Bone Marrow‐on‐a‐Chip Model for In Vitro Bone Remodeling and Immune Cell Maintenance

Advanced Science, Volume 13, Issue 51, 14 September 2026.
This study presents a human Bone (and Bone Marrow)‐on‐a‐Chip model based on native human bone scaffolds and autologous cells. Dynamic perfusion and sequential cell seeding replicate the physiological bone remodeling process in vitro, enabling the long‐term culture of functional, mature bone marrow immune subpopulations.
Nina Stelzer, Melanie‐Jasmin Ort, Kristian Händler, Emely Bortel, Ioanna Maria Dimitriou, Martin Textor, Georg N. Duda, Janosch Schoon, Uwe Marx, Uwe Kornak, Annika Winter, Bernhard Hesse, Stefanie Donner, Sebastian Hardt, Oliver Klein, Simon Reinke, Malte Spielmann, Sven Geißler   +17 more
wiley   +1 more source

Integrative approaches for the diagnosis of inborn errors of metabolism

, 2019
Inborn errors of metabolism (IEM) are a group of inherited genetic disorders affecting Human metabolism. Several examples will be presented illustrating the integration of the diagnostic approaches for different disease groups.info:eu-repo/semantics ...
Rocha, H.
core   +1 more source

T2T Genome Assembly and Multi‐Omics Data Reveal Terrestrial Adaptation and Mucus Biosynthesis in Tropical Leatherleaf Slug (Laevicaulis alte)

Advanced Science, Volume 13, Issue 51, 14 September 2026.
A gap‐free genome assembly and multi‐omics comparison of the terrestrial slug Laevichaulis alte with an aquatic relative reveal that expansion of the VEGF family orchestrates mucus production, lipid metabolism, and immune defense—highlighting key molecular innovations for conquering life on land.
Gang Wang, Shaofang He, Zhongkai Wang, Aobo Pang, Xiaoli Sun, Rongchen Liu, Fang Wang, Sisi Chen, Zhijuan Bian, Dongcheng Wei, Liuhan Wu, Siyao Zhao, Qiuting Ji, Yiqi Sun, Niying Sun, Yushinta Fujaya, Boping Tang, Kianann Tan, Daizhen Zhang, Lianfu Chen   +19 more
wiley   +1 more source

Engineering CAR‐Macrophages With Advanced Delivery Systems for Tissue Repair

Advanced Science, Volume 13, Issue 51, 14 September 2026.
This review highlights how engineered macrophages equipped with chimeric antigen receptors (CAR) guide tissue repair by recognizing disease‐related targets, clearing harmful cells, and reshaping local immune environments. It summarizes macrophage biology, CAR design, delivery platforms, and functionalization strategies, and discusses emerging ...
Yixin Zhang, Jintian Yu, Liang Yuan, Ziliang Fu, Yiming Yao, Lingna Chen, Shixiong Chen, Aikemu Ainiwaer, Xiaolin Cui   +8 more
wiley   +1 more source

ANALYTICAL METHODS DEVELOPMENT FOR THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM [PDF]

, 2008
Veneziano, Maria
core   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

The HEAT Repeat Protein MROH1 Deficiency Leads to Reduced Circulating Thyroid Hormone Levels in Mice

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
Global Mroh1 deficiency in male mice is associated with reduced circulating thyroid hormone level, late‐onset thyroid follicular remodelling, and lower whole‐thyroid abundance of Nkx2‐1, Foxe1, and Tg transcripts. These findings support a role for MROH1 in maintaining thyroid homeostasis and structural integrity.
Nami Ohuchi, Yoshinori Osaki, Yoshimi Nakagawa, Takafumi Miyamoto, Masaya Araki, Yuhei Mizunoe, Takaaki Matsuda, Yuki Murayama, Yoko Sugano, Hitoshi Iwasaki, Takashi Matsuzaka, Motohiro Sekiya, Hitoshi Shimano   +12 more
wiley   +1 more source

Baat‐Deficient Mice Recapitulate Elevated 7α‐Hydroxy‐3‐Oxo‐4‐Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACTBile acid Coenzyme A: amino acid N‐acyltransferase (BAAT) catalyzes the conjugation of bile acids with taurine or glycine, a process essential for bile acid solubility and intestinal lipid absorption. Mutations in BAAT cause an inborn error of bile acid metabolism, typically characterized by reduced conjugated bile acids and fat‐soluble vitamin
Soma Koga, Hajime Takei, Ryutaro Tamura, Yugo Takaki, Hiroyuki Kusuhara, Hiroshi Nittono, Hisamitsu Hayashi   +6 more
wiley   +1 more source

European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) steatotic liver disease special interest group position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction‐associated steatotic liver disease

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 3, Page 555-576, September 2026.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common reason for elevated liver enzymes in children in Europe, affecting more than 5% of all children. Since the last iteration of this position paper, there have been substantial advances in our understanding of the disease.
Jake P. Mann, Sander Lefere, Maarten Buytaert, Anna Alisi, Cigdem Arikan, Jernej Brecelj, Rachel M. Brown, Irene Degrassi, Giulia Fiore, Emer Fitzpatrick, Sven Francque, Christian A. Hudert, Wojciech Janczyk, Lauren Johansen, Bart G. Koot, Anastasia Konidari, Eberhard Lurz, Claudia Mandato, Maria Mercadal‐Hally, Hadar Moran‐Lev, Antonella Mosca, Giusy Ranucci, Maria Rogalidou, Penelope C. Rose, Piotr Socha, Pietro Vajro, Elvira Verduci, Anita C. E. Vreugdenhil, Natalia Zavhorodnia, Aglaia Zellos, Ruth De Bruyne   +30 more
wiley   +1 more source