Results 81 to 90 of about 3,750 (209)

The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)

Türk Biyokimya Dergisi
Congenital disorders of glycosylation (CDG) are a family of rare inherited metabolic disorders. This study aimed to examine the carbohydrate-deficient transferrin (CDT) screening results of 1,328 patients with suspected CDG by using transferrin-high ...
Ozgen Ozge, Güdek Kılıç Fatma, Gedikbaşı Asuman, Balcı Mehmet Cihan, Karaca Meryem, Durmuş Aslı, Tutu Belkıs, Körbeyli Hüseyin Kutay, Atalar Fatmahan, Gökçay Gülden Fatma   +9 more
doaj   +1 more source

Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix

The Turkish Journal of Pediatrics, 2020
Congenital glycosylation disorders (CDG) are a group of rare hereditary metabolic diseases that result from abnormal protein and lipid glycosylation.
Betül Kılıç, Nejmiye Akkuş
doaj   +1 more source

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
We report a novel homozygous pathogenic PGAP3 variant (c.202dupT; p.Cys68fs*2) in a child with hyperphosphatasia and severe neurodevelopmental impairment. Elevated alkaline phosphatase guided diagnosis, expanding the genotypic and phenotypic spectrum of PGAP3‐related HPMRS.
Arash Salmaninejad, Mohammad Reza Seyedtaghia, Ali Hosseini Bereshneh, Nasrin Azizi, Reza Bayat, Somaye Esnaashari, Vahid Aminzadeh, Shahin Koohmanaee, Shahram Savad, Majid Mojarrad, Setila Dalili   +10 more
wiley   +1 more source

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient [PDF]

, 2018
Summary: Congenital disorders of glycosylation (CDG) are a family of multisystem inherited disorders caused by defects in the biosynthesis of N- or O-glycans.
Ballhausen, D., Bonafé, L., Hanquinet, S., Henry, H., Kern, I., Newman, C., Rimella-Le-Huu, A., Roulet-Perez, E., Superti-Furga, A.   +8 more
core  

Evolutionary divergence and functional insights into the heteromeric cis‐prenyltransferase of Paramecium tetraurelia

The FEBS Journal, Volume 293, Issue 6, Page 1681-1707, March 2026.
Heteromeric cis‐prenyltransferases (CPT) are indispensable for dolichol synthesis and protein N‐glycosylation in most eukaryotes. The catalytic subunits are strongly conserved throughout evolution, in contrast to the evolutionarily variable accessory subunits. The POC1 protein from Paramecium tetraurelia is the smallest identified CPT‐accessory subunit
Agnieszka Onysk, Kamil Steczkiewicz, Mariusz Radkiewicz, Paweł Link‐Lenczowski, Przemysław Surowiecki, Karolina Sztompka, Kariona A. Grabińska, Jacek K. Nowak, Liliana Surmacz   +8 more
wiley   +1 more source

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review

Frontiers in Immunology
Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response.
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Rita Francisco, Rita Francisco, Rita Francisco, Patrícia Mexia, Patrícia Mexia, Patrícia Mexia, Beatriz Luís Pereira, Beatriz Luís Pereira, Beatriz Luís Pereira, Pedro Granjo, Pedro Granjo, Pedro Granjo, Helena Coelho, Helena Coelho, Mariana Barbosa, Mariana Barbosa, Mariana Barbosa, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula Alexandra Videira, Paula Alexandra Videira, Paula Alexandra Videira   +25 more
doaj   +1 more source

Insuficiencia hepática aguda asociada a enfermedades metabólicas hereditarias en ninos pequenos [PDF]

, 2017
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
Dias-Costa, F, Diogo, L, Ferreira, S, Garcia, P, Gonçalves, I, Moinho, R, Pinto, C   +6 more
core   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy [PDF]

, 2017
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to be a ...
Ali, M, Arno, G, Black, GC, Clayton-Smith, J, Grunewald, S, Hardcastle, AJ, Hull, S, Inglehearn, CF, Khan, KN, McKibbin, M, Michaelides, M, Moore, AT, Morarji, J, Pontikos, N, Poulter, JA, Rueda Martin, A, Smith, KR, Taylor, RL, Toomes, C, UK Inherited Retinal Disease Consortium and the 100,000 Genomes,, Webster, AR   +20 more
core   +2 more sources

Olig2‐specific loss‐of‐function Slc35a2 results in hypomyelination and spontaneous seizures

Epilepsia, Volume 67, Issue 2, Page 950-965, February 2026.
Abstract Objective Malformations of cortical development represent major causes of drug‐resistant epilepsy, with mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy recognized as a distinct pathological entity. Pathogenic X‐linked SLC35A2, encoding the uridine diphosphate–galactose transporter, has been implicated ...
Tiffany M. Bartel, Chaitali Ghosh, Kathryn Bisaha, Jean Khoury, Ashley Nemes‐Baran, Ingmar Blumcke, Imad Najm   +6 more
wiley   +1 more source