Inborn error of metabolism - Open Access .click

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AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review [PDF]

, 2018
Summary: Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
core

Newborn screening for inborn errors of metabolism: a systematic review.

Health Technology Assessment, 1997
: OBJECTIVES. To establish a database of literature and other evidence on neonatal screening programmes and technologies for inborn errors of metabolism.
Seymour +8 more
doaj +1 more source

Genetic-Metabolic News [PDF]

, 1973
This is the first in a series of newsletters designed to inform the Virginia medical community of recent advances in the area of genetics and metabolism and to provide information regarding a variety of services that are available at the Medical College ...

core +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 +3 more
core

The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study. [PDF]