Results 31 to 40 of about 37,318 (190)

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]

, 2020
CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J, Barshop, Bruce A, Benoist, Jean-Francois, Blom, Henk J, Das, Anibh M, Feigenbaum, Annette, Fletcher, Janice, Scheffner, Thomas, Schwahn, Bernd C, Stepman, Hedwig, Verloo, Peter   +10 more
core   +1 more source

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

Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]

, 2015
The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa, Berto, Alessandro, Desole, Giovanna, Pacenti, Monia, Palu', Giorgio, Sinigaglia, Alessandro, Trevisan, Marta   +6 more
core   +2 more sources

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

Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity

Frontiers in Immunology, 2019
The recent report of the International Union of Immunological Societies (IUIS) has provided the categorized list of 354 inborn errors of immunity. We performed a systematic analysis of genes and diseases from the IUIS report with the use of the OMIM ...
Lyubov E. Salnikova, Lyubov E. Salnikova, Lyubov E. Salnikova, Ekaterina V. Chernyshova, Lyudmila A. Anastasevich, Sergey S. Larin   +5 more
doaj   +1 more source

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms

Orphanet Journal of Rare Diseases
Background α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner.
Maryana Marins, Marco Antonio Curiati, Caio Perez Gomes, Renan Paulo Martin, Priscila Nicolicht-Amorim, Joyce Umbelino da Silva Yamamoto, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +8 more
doaj   +1 more source

Hereditary myopathy with early respiratory failure in China: one case report and literatures review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
Objective To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF).
LI Ying, QI Xue‑liang, ZHANG Wei, FENG Li‑qun, LIU Guang‑zhi, YUAN Yun   +5 more
doaj   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

A perilous path: the inborn errors of sphingolipid metabolism

Journal of Lipid Research, 2019
The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
Teresa M. Dunn, Cynthia J. Tifft, Richard L. Proia   +2 more
doaj   +1 more source

Nutritional Management in Polycystic Ovary Syndrome: Challenges and opportunities [PDF]

, 2021
PCOS is one of the most common endocrine diseases affecting women of reproductive age. Its etiology remains unresolved but it is thought to have a genetic basis as well as interactions with other environmental factors.
Ghazeeri, G., Ghazeeri, G., Hmedeh, C., Hmedeh, C., Tewfik, I., Tewfik, I.   +5 more
core   +1 more source