Results 161 to 170 of about 3,013 (227)

Atrial septal defect closure as second-line therapy in refractory heart failure: a successful case report in a 6-year-old child with phosphoglucomutase 1 deficiency (PGM1-CDG). [PDF]

Eur Heart J Case Rep
Mimoun S, Baruteau AE, Lefort B, Grunenwald C, Oscar W.   +4 more
europepmc   +1 more source

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights. [PDF]

Int J Mol Sci
Risso B, Riva A, Volpedo G, Conti V, di San Carlo CT, Zara F, Striano P, Falace A.   +7 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

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

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan. [PDF]

JIMD Rep
Okamoto N, Kadoya M, Wada Y.
europepmc   +1 more source

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies. [PDF]

Arch Iran Med
Alagha P, Akhtarkhavari T, Shokouhian E, Ghodratpour F, Arzhangi S, Najmabadi H, Kahrizi K.   +6 more
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

Uncommon Factors Leading to Nephrotic Syndrome. [PDF]

Biomedicines
Bogdanović L, Babić I, Prvanović M, Mijač D, Mladenović-Marković A, Popović D, Bogdanović J.   +6 more
europepmc   +1 more source

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

J Inherit Metab Dis
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   +1 more source