Results 51 to 60 of about 1,141,621 (185)

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Inborn errors of metabolism: a three-year experience

Journal of Behçet Uz Children's Hospital, 2019
INTRODUCTION: The deficiency or absence of an enzyme or cofactor in the metabolic pathway leads to the formation or accumulation of a specific metabolite resulting in inborn errors of metabolism (IEM).The neonate who is, usually, born healthy at birth ...
Ferit Kulalı, Melis Köse, Tuğçe Candan Çelik, Ezgi Yangın Ergon, Oğuz Han Kalkanlı, Rüya Çolak, Meral Yıldız, Senem Alkan Özdemir, Tülin Gökmen Yıldırım, Şebnem Çalkavur   +9 more
doaj   +1 more source

Control of mitochondrial dynamics and apoptotic pathways by peroxisomes

Frontiers in Cell and Developmental Biology, 2022
Peroxisomes are organelles containing different enzymes that catalyze various metabolic pathways such as β-oxidation of very long-chain fatty acids and synthesis of plasmalogens. Peroxisome biogenesis is controlled by a family of proteins called peroxins,
Chenxing Jiang, Tomohiko Okazaki
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

External cephalic version outcomes with tocolysis and sedation: A 10‐year retrospective cohort study

International Journal of Gynecology &Obstetrics, Volume 173, Issue 3, Page 1343-1351, June 2026.
Abstract Objective To evaluate the effectiveness and safety of external cephalic version (ECV) performed with tocolysis and sedation or spinal anesthesia, and to identify predictors of ECV success, complications, and delivery outcomes after successful ECV. Methods This 10‐year cohort study included 990 pregnant women with term non‐cephalic presentation
Javier Sánchez‐Romero, Rosa María Gallego‐Pozuelo, José Eliseo Blanco‐Carnero, Javier Herrera‐Giménez, Fernando Araico‐Rodríguez, Alberto Rafael Guijarro‐Campillo, Aníbal Nieto‐Díaz, Catalina de Paco‐Matallana   +7 more
wiley   +1 more source

Germinal Matrix Hemorrhage in Zellweger Syndrome

, 2010
A term male newborn was noted to have severe diffuse hypotonia, hyporeflexia, hepatosplenomegaly, and characteristic abnormal facies of Zellweger syndrome, the diagnosis of which was confirmed by identification of 2 mutations including Nt2098insT, a ...
Toshiki Takenouchi, G. Praveen Raju
core   +1 more source

Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome [PDF]

, 1984
We have recently reported on plasmalogen deficiency in tissues and fibroblasts from patients with Zellweger syndrome. In this paper we have analyzed the activity of the first enzyme in the pathway leading to plasmalogen biosynthesis, i.e.
Bosch, H. van den, Romeyn, G.J., Heymans, H.S.A., Schutgens, R.B.H., Schrakamp, G., Wanders, R.J.A.   +5 more
core   +2 more sources

A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders

Disease Models & Mechanisms, 2011
SUMMARY Human peroxisome biogenesis disorders are lethal genetic diseases in which abnormal peroxisome assembly compromises overall peroxisome and cellular function.
Fred D. Mast, Jing Li, Maninder K. Virk, Sarah C. Hughes, Andrew J. Simmonds, Richard A. Rachubinski   +5 more
doaj   +1 more source

The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis

Journal of Lipid Research, 2023
Peroxisomes are single-membrane bounded organelles that in humans play a dual role in lipid metabolism, including the degradation of very long-chain fatty acids and the synthesis of ether lipids/plasmalogens.
Serhii Chornyi, Rob Ofman, Janet Koster, Hans R. Waterham   +3 more
doaj   +1 more source

Functional diversity in agricultural landscapes: evidence of long‐term clustering and multi‐scale effects of land use on avian communities

Oikos, Volume 2026, Issue 6, June 2026.
Functional diversity (FD) is an essential community property connecting biodiversity, ecosystem functioning, and conservation objectives. In agricultural landscapes, avian communities, which play key functional roles, are facing large‐scale biodiversity erosion, largely due to land‐use changes.
Pietro Tirozzi, Olivia Dondina, Valerio Orioli, Luciano Bani   +3 more
wiley   +1 more source