Showing results (941-950 of 1,271) with videos related to

Sort By:
Pageof 128
JIMD Reports|May 12, 2021
Psychological well-being of early and continuously treated phenylketonuria patientsAlena Gerlinde Thiele, Nicole Spieß, Rudolf Ascherl, et al.
JIMD Reports|May 12, 2021
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesisCan Ficicioglu, Didem Demirbas, Britt Derks, et al.
JIMD Reports|May 12, 2021
Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational studyPascale de Lonlay, Roland Posset, Ulrike Mütze, et al.
JIMD Reports|May 13, 2020
Impaired lipolysis in propionic acidemia: A new metabolic myopathy?Jesper H Storgaard, Karen L Madsen, Nicoline Løkken, et al.
JIMD Reports|May 13, 2020
Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samplesHilde Laeremans, Charles Turner, Tommy Andersson, et al.
JIMD Reports|September 6, 2021
Clinical utility of methionine restriction in adenosine kinase deficiencyNajmah Almuhsen, Simon-Pierre Guay, Marie Lefrancois, et al.
JIMD Reports|September 6, 2021
Dietary management and growth outcomes in children with propionic acidemia: A natural history studyHaneen Saleemani, Csilla Egri, Gabriella Horvath, et al.
JIMD Reports|July 25, 2015
Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type IIIDèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.
JIMD Reports|May 27, 2015
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase DeficiencyMatthias Zielonka, Nawal Makhseed, Nenad Blau, et al.
JIMD Reports|August 20, 2016
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase DeficiencyRonen Spiegel, Devorah Soiferman, Avraham Shaag, et al.
Pageof 128