Results 91 to 100 of about 3,636 (221)

Transferrin D protein variants in the diagnosis of congenital disorders of glycosylation (CDG) [PDF]

Journal of Clinical Laboratory Analysis, 2009
AbstractCongenital disorders of glycosylation are a rapidly growing group of inherited (neuro)metabolic disorders characterized by defects in glycosylation of proteins and lipids. This study discusses an analytical problem in the differentiation between hypoglycosylation and transferrin (Tf) protein variants.
Eliska, Marklová, Ziad, Albahri
openaire   +2 more sources

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

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Reduction of Charged Glycoconjugates in Tango2 KO Mouse Brain

Proteoglycan Research, Volume 4, Issue 1, January 2026.
ABSTRACT The transport and Golgi organization 2 (TANGO2) gene has been identified to cause a rare recessive genetic disorder known as TANGO2‐deficiency disorder (TDD). TDD is a multi‐systemic disorder that can affect different organs including the brain, heart, and muscles, presenting as recurrent metabolic crises, muscle weakness, and neurological ...
Edward S. X. Moh, Maike Stentenbach, Tim McCubbins, Nicolle H. Packer   +3 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A ‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of β1,4-galactosyltransferase 1 and α2,6-sialyltransferase 1 [PDF]

, 2017
Initially described by Jaeken et al. in 1980, congenital disorders of glycosylation (CDG) is a rapidly expanding group of human multisystemic disorders.
Duvet, Sandrine, Foulquier, François, Legrand, Dominique, Matthijs, Gert, Mir, Anne-Marie, Peanne, Romain, Rohrer, Jack   +6 more
core  

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Palliative care should be an integral part of follow‐up for patients with life‐limiting/life‐threatening conditions, irrespective of age and diagnosis. Many patients with inherited metabolic disorders (IMD) have palliative care needs due to multi‐systemic conditions without curative treatment options.
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, Julia Neugebauer, Francois Eyskens, Dorothea Haas, Karin Mossler, Antije Enekwe, Beata Kiec‐Wilk, Lien My Diep, Cinzia Maria Bellettato, Boris Zernikow, Maurizio Scarpa, Shamima Rahman, Trine Tangeraas, MetabERN collaboration group on palliative care, Aasne K Aarsand, Patrício Aguiar, Brassier Anaϊs, Jean‐Baptiste Arnoux, Madara Auzenbaha, Olga Azevedo, Anabela Oliveira Bandeira, Amaya Belanger‐Quintana, Marcello Bellusci, Nadia Belmatoug, Andrea Bordugo, Annet M Bosch, Mara Botti, Radan Brůha, Teresa Campos, Cândida Cancelinha, Giovanni Ceccarini, Graziella Cefalo, Rimante Cerkauskiene, Ellen Crushell, Paulo Castro Chaves, Anibh Martin Das, Corinne De Laet, Terry GJ Derks, Felix Distelmaier, Dries Dobbelaere, João Durães, Marc Engelen, Ana Cristina Leal das Neves Ferreira, Serena Gasperini, Urh Groselj, Sarah C Grünert, Debray François‐Guillaume, Arlindo Guimas, Evren Gumus, Sabine Weller Grønborg, Julia B Hennermann, Javier de las Heras, Hidde H Huidekoper, Mirian Ch Janssen, Pavel Ješina, Stefan Kölker, Eva M M Hoytema van Konijnenburg, Alessandro La Rosa, Svetlana Lajic, Risto Lapatto, Elisa Leão‐Teles, Vincenzo Leuzzi, Allan M Lund, Maria Carmo Macário, Martin Magner, Giacomo Marchi, Diego Martinelli, Esmeralda Martins, Mariarosa Anna Beatrice Melone, Dorothea Moeslinger, Ahmad Ardeshir Monavari, Sónia Moreira, Nicole Muschol, Marie‐Cécile Nassogne, Andreas Oberg, Thomas Opladen, Katrin Õunap, Bianca Panis, Germaine Pierre, Francesco Porta, Pilar Quijada‐Fraile, Danijela Petković Ramadža, Esmeralda Rodrigues, Alessandro Rossi, Paula Sánchez‐Pintos, Maria Cristina Schiaffino, Anke Schumann, Sinziana Stanescu, Mojca Žerjav Tanšek, Joanna Taybert, Kiarash Tazmini, Birute Tumiene, Arnaud Vanlander, Patrick Verloo, Komninaka Veroniki, Elena Verrecchia, Natalie Weinhold, Tamara Žigman, Mette Cathrine Ørngreen   +100 more
wiley   +1 more source

Regulation of dolichol-linked glycosylation [PDF]

, 2018
In the majority of congenital disorders of glycosylation, the assembly of the glycan precursor GlcNAc2Man9Glc3 on the polyprenol carrier dolichyl-pyrophosphate is compromised.
Welti, Michael
core  

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) [PDF]

, 2015
Congenital disorders of glycosylation (CDG) are a constantly growing group of genetic defects of glycoprotein and glycolipid glycan synthesis. CDGs are usually multisystem diseases, and in the majority of patients, there is an important neurological involvement comprising psychomotor disability, hypotonia, ataxia, seizures, stroke-like episodes, and ...
FIUMARA, Agata, BARONE, RITA MARIA ELISA, Del Campo G, Striano P, Jaeken J.   +4 more
openaire   +3 more sources