Results 81 to 90 of about 1,603 (150)

Language outcomes subsequent to treatment of brainstem tumour in childhood [PDF]

, 2005
While the occurrence and management of brainstem tumours in children would not traditionally indicate potential direct structural impact on classical language centres, recent theories have implicated some involvement of the brainstem in a functional ...
Docking, Kimberley M., Murdoch, Bruce E., Ward, Elizabeth C.   +2 more
core   +1 more source

Combined enhancement of ascorbic acid, β‐carotene and zeaxanthin in gene‐edited lettuce

Plant Biotechnology Journal, Volume 23, Issue 6, Page 1954-1967, June 2025.
Summary Lettuce is widely grown and consumed but provides lower nutritional value compared to other leafy greens, particularly in the essential vitamins A and C. To address this, major control points in carotenoid and ascorbic acid (AsA) production were targeted using a viral‐based CRISPR/Cas9 system in the commercial lettuce cultivar ‘Noga’.
Yarin Livneh, Ehud Leor‐Librach, Dor Agmon, Tal Makov‐Bouaniche, Vivekanand Tiwari, Ekaterina Shor, Yelena Yeselson, Tania Masci, Arthur Schaffer, Dana Charuvi, Joseph Hirschberg, Alexander Vainstein   +11 more
wiley   +1 more source

Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency: Date of submission: 24-11-2020 | Date of acceptance: 06-05-2021 | Published: 03-10-2021

Portuguese Journal of Pediatrics, 2021
Phosphomannomutase 2 deficiency congenital disorder of glycosylation (PMM2-CDG), the most prevalent N-glycosylation disease, is a multi-organ disease with marked clinical heterogeneity. Severe liver involvement is not a common find in these patients.
Pinto Silva, Catarina, Almeida, Joana, Diogo, Luísa, Nobre, Susana   +3 more
openaire   +1 more source

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni   +10 more
doaj   +1 more source

Advancing the understanding of Congenital Disorders of Glycosylation symptoms to accelerate therapies [PDF]

, 2023
The work developed during this master project has originated: Posters: Falcão M, Parrado M, Pascoal C, Francisco R, Brasil S, Videira PA, Ferreira V. Empowering CDG families and professionals with an arsenal of educational resources.
Parrado, Madalena Romão
core  

TOWARDS THERAPEUTIC APPROACHES FOR HUMAN GLYCOSYLATION DISORDERS FROM TRANSCRIPTOMIC AND IMMUNOLOGICAL CHARACTERIZATION TO PATIENT-CENTRED OUTCOMES RESEARCH [PDF]

, 2023
Glycosylation is a post-translational modification that occurs ubiquitously in the human body and essential for all biological and physiological body functions.
Smith, Carlota Moutinho Pascoal
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Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia [PDF]

, 2023
Phosphomannomutase 2 (PMM2) deficiency causes Congenital Disorder of Glycosylation (PMM2-CDG), but does not have a recognised association with Inflammatory Bowel Disease (IBD).
Azabdaftari, A, Böckenhauer, D, Campos, L, Dastamani, A, Gaynor, E, Grünewald, S, Jones, KDJ, Kiparissi, F, Kleta, R, Palm, L, Uhlig, HH   +10 more
core  

Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2 [PDF]

: The metabolite Glucose-1,6-bisphosphate (Glc-1,6-P2) plays a vital role in human metabolism, and is a crucial activator and stabilizer for phosphomannomutase-2 (PMM2) - mutations within this protein propagate the most common congenital disorder of ...
Andreotti, Giuseppina, Cubellis, Maria Vittoria, Kodrikova, Rebeka, Monti, Maria Chiara, Monticelli, Maria, Morretta, Elva, Nemcovic, Marek, Pakanova, Zuzana, Paris, Debora   +8 more
core   +1 more source

AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG)

Abstract Phosphomannomutase 2 (PMM2) deficiency is the most common congenital disorders of glycosylation (CDG) with an estimated incidence ranging from 1:20,000 to 1:80,000. Patients manifest a broad spectrum of clinical manifestations, with neurological deficits often emerging as the earliest sign, and may progress to severe multi-organ ...
Zhong, M, Lai, K
openaire   +2 more sources

A Study on Glycosylation pattern of Serum Transferrin in patients with clinically suspected Congenital Glycosylation disorders [PDF]

, 2017
INTRODUCTION: Congenital disorder of glycosylation (CDG) is an inborn error of metabolism due to defective glycosylation of glycoproteins/glycolipids. It is a multisystem disorder with wide range of clinical presentations.
Preethi, A
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