Results 191 to 200 of about 36,711 (394)
Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry [PDF]
, 1995 Mohamed S. Rashed +3 more
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Cell Proliferation, EarlyView.CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance
Ana Alarcón +33 more
wiley +1 more source
An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum
, 1978 Emanuel Epstein
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The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management. [PDF]
Orphanet J Rare DisHarings T +7 more
europepmc +1 more source
Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. [PDF]
Sudan J Paediatr, 2019 Reddy JM, Jose J, Prakash A, Devi S.
europepmc +1 more source
Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?
, 1979 Shiro Hayashi +4 more
openalex +2 more sources