Results 11 to 20 of about 763 (113)

Clinical utility gene card for: Phosphomannomutase 2 deficiency. [PDF]

Eur J Hum Genet, 2014
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Jaeken J, Lefeber D, Matthijs G.
europepmc   +5 more sources

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2023
Phosphomannomutase 2 deficiency is the most common form of N-glycosylation disorders and is also known as phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It is an autosomal recessive disease with multi-system involvements and is caused by mutations in the PMM2 gene (OMIM: 601785), with varying severities in individuals. At present,
Zhou SY.
europepmc   +3 more sources

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures [PDF]

Journal of Inherited Metabolic Disease, 2021
AbstractPhosphomannomutase 2 (PMM2) deficiency, the most frequent congenital disorder of glycosylation (PMM2‐CDG), is a severe condition, which has no cure. Due to the identification of destabilizing mutations, our group aims at increasing residual activity in PMM2‐CDG patients, searching for pharmacochaperones.
Alvaro Briso‐Montiano, Francisco Del Caño‐Ochoa, Alicia Vilas, Adrián Velázquez‐Campoy, Vicente Rubio, Belén Pérez, Santiago Ramón‐Maiques   +6 more
openaire   +3 more sources

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. [PDF]

Mol Genet Genomic Med
A rare homozygous variant in the PGM2L1 gene (NM_173582.6: c.1673delC, p.Thr558Ilefs*19) was identified in a patient presenting with developmental delay, seizures, and bilateral frontotemporal subarachnoid widening. ABSTRACT Background PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical ...
Niu M, Wang D, Jia S.
europepmc   +2 more sources

Organoids for Metabolic Disease Modeling. [PDF]

J Inherit Metab Dis
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Ardisasmita AI, Nieuwenhuis EES, Fuchs SA.   +2 more
europepmc   +2 more sources

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P, other members of the expert group consortium.   +25 more
europepmc   +2 more sources

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor. [PDF]

JIMD Rep
ABSTRACT Aldose reductase inhibitors (ARI) have been identified as a potential treatment for phosphomannomutase‐2 congenital disorder of glycosylation (PMM2‐CDG), a serious condition for which no treatments are approved. We treated a single patient for 36 months 30 months of age at enrollment, under a single‐patient investigational new drug expanded ...
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J.   +4 more
europepmc   +2 more sources

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. [PDF]

Biochim Biophys Acta, 2009
Phosphomannomutase (PMM2, Mannose-6-P--> Mannose-1-P) deficiency is the most frequent glycosylation disorder affecting the N-glycosylation pathway. There is no therapy for the hundreds of patients who suffer from this disorder. This review describes previous attempts at therapeutic interventions and introduces perspectives emerging from the drawing ...
Freeze HH.
europepmc   +4 more sources

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]

J Inherit Metab Dis
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation, characterized by variable early‐onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi‐organ manifestations. Although several clinical trials are ongoing, current biomarkers lack prognostic or monitoring utility ...
Epifani F, Cabus L, Nolasco GA, Bolasell M, Pérez J, Alcalá A, Fernández P, Lizano E, Márquez G, Belmonte S, Carbonell-Sala S, Lagarde J, Curado J, Hernando-Davalillo C, Serrano M.   +14 more
europepmc   +2 more sources

Mannose supplementation in PMM2-CDG

Orphanet Journal of Rare Diseases, 2021
In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG.
Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt   +5 more
doaj   +1 more source