Results 101 to 110 of about 5,729,752 (125)

The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities. [PDF]

Mol Genet Metab Rep
Rollier P, Cospain A, Barth M, Milon V, Gueguen N, Homedan C, Desquiret V, Bris C, Colin E, Damaj L, Ryckewaert A, Reynier P, Odent S, Amati-Bonneau P, Procaccio V, Bonneau D, Ziegler A.   +16 more
europepmc   +1 more source

Digital psychological interventions in youth with neurological disorders: a systematic review. [PDF]

J Pediatr Psychol
Keevers Y, Sivaneswaran A, Dudeney J, Woldhuis T, Gandy M.   +4 more
europepmc   +1 more source

Development and Validation of the Brief Inventory of Treatment Expectations in Chronic Pain (BITEC). [PDF]

Eur J Pain
Caumo W, França BR, Ehlers J, de Jezus Castro SM, Borges RB, Hirakata VN, Bueno GB, da Torres IL, Fregni F.   +8 more
europepmc   +1 more source

Management of patients with post Covid-19 condition in France: A qualitative study exploring nurses' contributions to care pathways. [PDF]

J Public Health Res
Kamdem OL, Guyot J, Dupre C, Gouttefarde P, Vericel MP, Fanget M, Nguefeu Nkenfou C, Hupin D, Roche F, Botelho-Nevers E, Bongue B.   +10 more
europepmc   +1 more source

Clinical and genetic spectrum of pediatric mitochondrial disorders in China: insights from a 47-case genetically confirmed cohort. [PDF]

Orphanet J Rare Dis
Yang F, Yao R, Chang G, Hu J, Feng B, Wang L, Hu F, Huang Y, Wu S, Yu T, Ding Y, Wang X.   +11 more
europepmc   +1 more source

Endovascular Therapy for Post-Thrombotic Syndrome - A Randomized Trial. [PDF]

N Engl J Med
Vedantham S, Kahn SR, Marston WA, Weinberg I, Sista AK, Magnuson EA, Cohen DJ, Wasan SM, Razavi MK, Goldhaber SZ, Sanfilippo KM, Comerota AJ, Azene EM, Chaar CIO, Leung DA, Kolli KP, Kalva SP, Rostambeigi N, Desai A, Desai KR, Tafur AJ, Khalsa B, Majerus E, Wang B, Wang Y, Nieters P, Derfler MC, Oliver A, Hardy C, Bashir R, Winokur R, Weger N, Khaja MS, Sharma A, Mani N, Kavali P, Thukral S, Lake LL, Mikkelsen K, Parpia S, C-TRACT Trial Investigators.   +40 more
europepmc   +1 more source

Use of nailfold capillaroscopy for evaluation of disease activity in juvenile dermatomyositis: Results of a two-center retrospective study. [PDF]

World J Clin Pediatr
Podzolkova V, Avrusin IS, Nikolaeva M, Afonina E, Davtian S, Nurseitova A, Kravtsova K, Malahova A, Yakovlev AA, Avrusin SL, Kalashnikova OV, Chasnyk VG, Kostik MM.   +12 more
europepmc   +1 more source

Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach [PDF]

Journal of Multidisciplinary Healthcare, 2015
This review describes and summarizes the available evidence related to the treatment and management of Barth syndrome. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards were used to identify articles published ...
Stacey Reynolds
exaly   +1 more source

Clinical laboratory studies in Barth Syndrome

Molecular Genetics and Metabolism, 2014
Barth Syndrome is a rare X-linked disorder characterized principally by dilated cardiomyopathy, skeletal myopathy and neutropenia and caused by defects in tafazzin, an enzyme responsible for modifying the acyl chain moieties of cardiolipin. While several
Hilary J Vernon, Richard I Kelley, Yana Sandlers   +2 more
exaly   +2 more sources