Results 221 to 230 of about 2,729,552 (357)

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China. [PDF]

PeerJ
Zhu J, Han L, Yang P, Feng Z, Xue S.
europepmc   +1 more source

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard. [PDF]

J Inherit Metab Dis, 2022
Kirk EP, Delatycki MB, Laing N.
europepmc   +1 more source

Sudden unexpected infant death, sudden unexplained death in childhood, and sudden unexpected death in epilepsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Sudden deaths in infants and children represent a profound and tragic event that continues to challenge researchers despite extensive investigation over several decades. The predominant phenotype, sudden infant death syndrome (SIDS), has evolved into the broader category of sudden unexpected infant death (SUID).
Suvasini Sharma, Robyn Whitney, Sayoni Roy Chowdhury, Rajesh Ramachandrannair   +3 more
wiley   +1 more source

Laboratoriumsdiagnostik neurometabolischer Erkrankungen im Kindesalter/Laboratory Diagnostics of Neurological Inborn Errors of Metabolism in Childhood [PDF]

, 2002
GC Korenke
openalex   +1 more source

Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism. [PDF]

J Inherit Metab Dis
Safarikia S, Cirelli R, Spagnoletti G, Martinelli D, Bravetti G, Francalanci P, D'Alessandro A, Di Felice G, Maistri M, Baldissone E, Fratti AM, Simeoli R, Sacchetti E, Cairoli S, Rizzo C, Pariante R, Vacca M, Cappoli A, Albano C, Pietrobattista A, Spada M, Vici CD.   +21 more
europepmc   +1 more source

Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry. [PDF]

Pediatr Rep, 2023
Meiouet F, El Kabbaj S, Abilkassem R, Boemer F.   +3 more
europepmc   +1 more source

The risk of epilepsy after neonatal seizures

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16288 Abstract Aim To estimate the cumulative risk of epilepsy after neonatal seizures and identify subpopulations at increased risk. Method This was a nationwide register‐based cohort study including all children born in Denmark between 1997 and 2018.
Jeanette Tinggaard, Signe V. Pedersen, Mads L. Larsen, Andreas K. Jensen, Gorm Greisen, Bo M. Hansen, Christina E. Hoei‐Hansen   +6 more
wiley   +1 more source

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry [PDF]

, 2003
Bridget Wilcken, Veronica Wiley, Judith Hammond, Kevin Carpenter   +3 more
openalex   +1 more source

RNA solutions to treat inborn errors of metabolism. [PDF]

Mol Genet Metab, 2022
Martinez-Pizarro A, Desviat LR.
europepmc   +1 more source

The fetal neurologist: Strategies to improve training, practice, and clinical care

Developmental Medicine &Child Neurology, EarlyView.
Abstract Fetal neurology addresses counselling parents on the clinical significance of brain anomalies encountered in their fetus, including disruptive lesions (i.e. stroke, periventricular haemorrhagic infarction, and infection), and genetically based cortical (i.e.
Tally Lerman‐Sagie, Anthony R. Hart
wiley   +1 more source