Results 61 to 70 of about 1,425 (92)

Innovative Strategies in X-ray Crystallography for Exploring Structural Dynamics and Reaction Mechanisms in Metabolic Disorders. [PDF]

J Pers Med
Grieco A, Quereda-Moraleda I, Martin-Garcia JM.   +2 more
europepmc   +1 more source

MetALD: decoding the evolution of steatotic liver disease nomenclature and implications for clinical practice and beyond. [PDF]

Gastroenterol Rep (Oxf)
Ghodrati F, Zhang AB, Mahmud N.
europepmc   +1 more source

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review. [PDF]

BMC Med Genomics
Kinsinger M, Ivanisevic J, Mithal DS.
europepmc   +1 more source

Update on Genetic Chorea. [PDF]

Eur J Neurol
Pérez-Pérez J, Olmedo-Saura G, Martínez-Horta S, Bernal S, Pagonabarraga J, Kulisevsky J.   +5 more
europepmc   +1 more source

Learning from inborn errors of immunity and secondary immune deficiencies about vaccine immunogenicity, efficacy, and safety. [PDF]

Clin Exp Immunol
Peters NE, Shields AM, Hambleton S, Richter AG.   +3 more
europepmc   +1 more source

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Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism.

Pediatric clinics of North America, 2018
Movement disorders in the pediatric age group are largely of the hyperkinetic type. Metal ion accumulation in the central nervous system presents predominantly with movement disorders and over time leads to psychomotor decline. Abnormalities in monoamine and amino acidergic neurotransmitter metabolism present in individuals with a combination of ...
Trishna, Kantamneni, Lileth, Mondok, Sumit, Parikh   +2 more
openaire   +1 more source

Inborn errors of trace metal metabolism.

British journal of hospital medicine, 1987
A variety of complex systemic, hepatic and neuropsychiatric syndromes result from inborn errors of trace metal metabolism. Some of these respond to treatment and prophylactic management while for some intractable conditions prenatal diagnosis is possible.
openaire   +1 more source