Results 141 to 150 of about 26,055 (351)

Inborn Errors of Metabolism [PDF]

Biochemical Society Transactions, 1981
openaire   +5 more sources

Interhospital variation in the management of Brief Resolved Unexplained Events (BRUE) in infants: A Canadian multicenter cohort study

Journal of Hospital Medicine, EarlyView.
Abstract Background Guidelines on Brief Resolved Unexplained Event (BRUE) only provide recommendations for infants categorized at lower risk. However, most infants fall into the higher‐risk category, leaving management decisions to individual clinicians and contributing to variation in care.
Nassr Nama, Kara Picco, Polina Kyrychenko, Jeffrey N. Bone, Julie Quet, Jessica L. Foulds, Josée Anne Gagnon, Chris Novak, Brigitte Parisien, Matthew Donlan, Ran D. Goldman, Anupam Sehgal, Ronik Kanani, Joanna Holland, Sanjay Mahant, Eric Coon, Joel S. Tieder, Peter J. Gill, The Canadian BRUE Collaboration (C‐BRUE‐C) and the Canadian Paediatric Inpatient Research Network (PIRN)   +18 more
wiley   +1 more source

Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism. [PDF]

Cureus, 2020
Khan A, Zahid B, Khan S, Ahmad SA.
europepmc   +1 more source

Creatine deficiency syndromes and the importance of creatine synthesis in the brain [PDF]

, 2018
Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy.
Braissant, Olivier, Béard, Elidie, Henry, Hugues, Uldry, Joséphine   +3 more
core  

Combined immunodeficiency and inborn errors of purine metabolism [PDF]

, 1978
H.J. Meuwissen, Bernard Pollara
openalex   +1 more source

The Sense of Smell (SoS) Atlas: Its Creation and First Application to Investigate COVID‐19 Related Anosmia With a Comprehensive Quantitative MRI Protocol

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background The loss of smell (anosmia) has been noted in numerous diseases, including COVID‐19. Inflammatory and microstructural alterations are possible underlying mechanisms of anosmia in COVID‐19. However, no atlas exists to study olfaction and the associated tissue property changes.
Marta Gaviraghi, Eleonora Lupi, Elena Grosso, Andrea Fusari, Mattia Baiguera, Anita Monteverdi, Marco Battiston, Francesco Grussu, Baris Kanber, Ferran Prados Carrasco, Rebecca S. Samson, Janine Makaronidis, Marios C. Yiannakas, Michael S. Zandi, Rachel L. Batterham, Egidio D'Angelo, Fulvia Palesi, Claudia A. M. Gandini Wheeler‐Kingshott   +17 more
wiley   +1 more source

Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. [PDF]

, 1974
N. J. Brandt, S Brandt, K. Rasmussen, F Schnoheyder   +3 more
openalex   +1 more source

Association between mixed fatty acid emulsion and parenteral nutrition–associated cholestasis in extremely low‐birth‐weight infants: A retrospective cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Soybean oil lipid emulsions have been implicated in the development of parenteral nutrition–associated cholestasis (PNAC) in premature infants. A recent mixed fatty acid emulsion containing soybean oil, medium‐chain triglycerides (MCTs), olive oil, and fish oil may reduce the incidence of PNAC, but evidence remains conflicting.
Tian Xie, Hongfang Mei, Mingyan Chen, Yanping Xu, Xiaolu Ma, Liping Shi, Zheng Chen   +6 more
wiley   +1 more source

Genetical theory and the "inborn errors of metabolism". [PDF]

, 1970
H. Harris
openalex   +1 more source

Association between bioelectrical impedance analysis parameters and metabolic dysfunction–associated steatotic liver disease relative to handgrip strength in children and adolescents in Korea: A comparative study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Investigations on the association among bioelectrical impedance analysis, handgrip strength, and metabolic dysfunction–associated steatotic liver disease (MASLD) in children and adolescents are limited. Therefore, the present study explored the relationship between bioelectrical impedance analysis parameters, handgrip, and MASLD in ...
Kyungchul Song, Eunju Lee, Hye Sun Lee, Hana Lee, Joon Young Kim, Youngha Choi, Hyun Wook Chae   +6 more
wiley   +1 more source