Results 61 to 70 of about 122,438 (258)

An Overview of the Inborn Errors of Metabolism, Its Diagnosis, and Management [PDF]

, 2023
Avijit Saha, Shritama Aich, Kheya Mukherjee, Tapas Kumar Sur, S Ghosh, Sanjay Vashisth   +5 more
openalex   +1 more source

Turning Points in the Evolution of Isolated Neutron Stars' Magnetic Fields [PDF]

, 2006
During the life of isolated neutron stars (NSs) their magnetic field passes through a variety of evolutionary phases. Depending on its strength and structure and on the physical state of the NS (e.g.
A. Alpar, A. Alpar, A. Bonanno, A. Cumming, A. Cumming, A. Dolginov, A. Heger, A. Muslimov, A. Potekhin, A. Reisenegger, A. Schwope, C. Cutler, C. Ott, C. Thompson, D. Bhattacharya, D. Konenkov, D. Page, D. Page, D. Shalybkov, D. Yakovlev, D. Yakovlev, E. Flowers, E. Gudmundsson, E. Pitts, F. Haberl, F. Haberl, F. Haberl, F. Haberl, F. Krause, F. Winterberg, G. Greenstein, G. Wrihgt, H. Chau, H. Spruit, H. Spruit, H.-J. Wiebicke, J. Braithwaite, J. Braithwaite, J. Braithwaite, J. Braithwaite, J. Gil, J. Miralles, J. Miralles, J. Miralles, J. Pons, J. Pons, J. Pérez-Azorín, J. Pérez-Azorín, J. Trümper, J. Ziman, K. Petrovay, K. Prendergast, L. Villain, M. Adelsberg van, M. Colpi, M. Rheinhardt, M. Rheinhardt, M. Rheinhardt, M. Rheinhardt, M. Ruderman, O. Gnedin, P. Goldreich, P. Haensel, P. Jones, P. Markey, P. Podsiadlowski, P. Roberts, R. Blandford, R. Chevalier, R. Hollerbach, R. Kulsrud, R. Tayler, S. Akiyama, S. Vaĭnshteĭn, S. Vaĭnshteĭn, S. Zane, S. Zane, T. Naito, T. Thompson, U. Geppert, U. Geppert, U. Geppert, U. Geppert, U. Geppert, U. Geppert, U. Geppert, U. Geppert, V. Urpin, V. Urpin, V. Urpin, V. Zavlin, W. Becker, W. Keil   +92 more
core   +2 more sources

Historic landmarks in clinical transplantation: Conclusions from the consensus conference at the University of California, Los Angeles [PDF]

, 2000
The transplantation of organs, cells, and tissues has burgeoned during the last quarter century, with the development of multiple new specialty fields.
Brent, LB, Calne, RY, Dausset, JB, Good, RA, Groth, CG, Murray, JE, Schwartz, RS, Shumway, NE, Starzl, TE, Terasaki, PI, Thomas, ED, Van Rood, JJ   +11 more
core   +1 more source

Struggling with COVID-19 in Adult Inborn Errors of Immunity Patients: A Case Series of Combination Therapy and Multiple Lines of Therapy for Selected Patients [PDF]

, 2023
Patrick Bez, Giancarlo D’Ippolito, Carla Maria Deiana, Renato Finco Gambier, Andrea Pica, Giulia Costanzo, Giulia Garzi, Riccardo Scarpa, Nicholas Landini, Francesco Cinetto, Davide Firinu, Cinzia Milito   +11 more
openalex   +1 more source

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

Orphanet Journal of Rare Diseases, 2020
Background Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients.
Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone, Maria Alice Donati   +7 more
doaj   +1 more source

Inborn errors of immunity present with neuropsychiatric symptoms overlapping with autistic behavioral symptoms [PDF]

, 2023
Harumi Jyonouchi
openalex   +1 more source

Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert

Orphanet Journal of Rare Diseases
Background Gaucher Disease (GD) is a lysosomal storage disorder. Mutations in the GBA1 gene cause glucocerebrosidase enzyme deficiency that leads to the accumulation of its substrates.
Ayşe Akyüz, Aslı İnci, İlyas Okur, Leyla Tümer, Fatih Süheyl Ezgü   +4 more
doaj   +1 more source

Inborn Errors of Metabolism

, 2016
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire   +3 more sources

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +1 more source