Results 161 to 170 of about 3,636 (221)

Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges Ahead. [PDF]

Biomedicines
Abu Bakar N, Hamzan NI.
europepmc   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope. [PDF]

J Mov Disord
Zouari R, Hlioui L, Saied MZ, Ben Mohamed D, Ben Sassi S, Amouri R.   +5 more
europepmc   +1 more source

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

JIMD Rep
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J.   +4 more
europepmc   +1 more source

Case Report: Novel <i>MAGT1</i> pathogenic variant with significant atopy, hypogammaglobulinemia and viral skin infections. [PDF]

Front Immunol
Gunderman L, Ptak CP, Schutt M, Yahashiri K, Lippner E, Khojah A, Ahmed A, Khanolkar A.   +7 more
europepmc   +1 more source

Letter to the Editor. Multifaceted approaches for the treatment of stroke and venous thrombosis in PMM2-congenital glycosilation disorder. [PDF]

J Neurosurg Case Lessons
Finsterer J.
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology. [PDF]

ACS Omega
Driesen K, De Craemer S, Morava E, Cassiman D, Witters P, Ghesquière B.   +5 more
europepmc   +1 more source

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway. [PDF]

Front Immunol
Pascoal C, Granjo P, Kodríková R, Falcão M, Santos AC, Teodoro I, Pakanová Z, Nemčovič M, Mucha J, Castro-Caldas M, Grosso AR, Dos Reis Ferreira V, Videira PA.   +12 more
europepmc   +1 more source