Results 131 to 140 of about 2,125,068 (305)
Secondary and Tertiary Prevention of Inborn Errors of Metabolism
, 2020 This thesis is focused on understanding inborn errors of metabolism, secondary and tertiary prevention of them, and also a feature addressing the limitations to effective management in developing world countries.
Olaosebikan, Kikelomo Olamide
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Approach to inborn errors of metabolism presenting in the neonate
, 2008 Inborn errors of metabolism (IEM) are an important cause of acute illness in newborns. Presentation may mimic common neonatal conditions such as sepsis. Prompt detection requires a high index of suspicion and the early measurement of biochemical markers ...
Sharma, Suvasini +11 more
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Mass Spectrometry Reviews, EarlyView.ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Smartphone applications for early screening of retinoblastoma: a scoping review
BMC OphthalmologyIntroduction Retinoblastoma is the most common intraocular malignancy in childhood, typically presenting before five years of age. Early detection is essential in improving survival and visual outcomes.
Kartiekasari Syahidda Mohammad Zubairi +6 more
doaj +1 more source
Genetic Etiologies of Dystonia with Anarthria/Aphonia
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey +7 more
wiley +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
A rare diagnosis during evaluation for metabolic dysfunction associated steatotic liver disease: Glycogen storage disease type Ia presenting during adolescence in a male with severe obesity [PDF]
JPGN RepAbstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is a common comorbidity of pediatric obesity that predisposes patients to hepatocellular adenomas (HCAs). HCAs however are nonspecific to MASLD and warrant further evaluation. We present a case of a 16‐year‐old male with severe obesity, and persistently elevated liver enzymes ...
Trocchia C +3 more
europepmc +2 more sources
METAGENE and RAMEDIS: databases for metabolic diseases and patients with inborn errors on metabolism
, 2008 Trefz F, Scheible D, Götz H, Töpel T, Hofestädt R, Frauendienst-Egger G. METAGENE and RAMEDIS: databases for metabolic diseases and patients with inborn errors on metabolism. Journal of Inherited Metabolic Disease.
Scheible, D. +5 more
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