Results 241 to 250 of about 248,318 (303)

Dysfibrinogenemia and elevated anti-cyclic citrullinated peptide antibodies: a rare and intriguing case. [PDF]

Arch Med Sci
Sun H, Jiang X, Yang L, Lin J, Sheng H.
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Predictive value of neutrophil-to-lymphocyte ratio on hospital outcomes of patients with community-acquired pneumonia. [PDF]

PLoS One
Hossion Z, Hossain Z, Islam F, Yasmin S.
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Dysfunction in Human Diseases: Molecular Mechanisms and Pathophysiological Implications. [PDF]

Cells
Rahman MS, Daira M.
europepmc   +1 more source

[CLINICO-STATISTICAL FINDINGS ON ACQUIRED CARDIAC VALVE DISEASES].

Reumatismo, 1996
A, BALLABIO, V, GUALANDRI, G F, PARENTI
openaire   +1 more source

Diagnostic Approach to Left Ventricular Hypertrophy: A Review. [PDF]

US Cardiol
Banthiya S, Agrawal A, Rai D, Chowdhury M, Pan S, Naidu SS.   +5 more
europepmc   +1 more source

Nomogram prediction model for pneumonia after valve replacement in patients with heart valve disease. [PDF]

Front Cardiovasc Med
Liu Y, Wang X, Wang S, Cao Y.
europepmc   +1 more source