Rina Lilje
Curtis R. Coughlin II,
Laura A. Tseng,
Jose E. Abdenur,
Catherine Ashmore,
F Boemer,
Levinus A. Bok
m.fl.:
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
The Journal of Inherited Metabolic Disease (JIMD) 2020 DOI
Trine Tangeraas,
Ingjerd Sæves,
Claus Klingenberg,
Jens V Jørgensen,
Erle Kristensen,
Gunnþórunn Gunnarsdottir
m.fl.:
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Alex Pinto,
Sharon Evans,
Anne Daly,
Manuela Ferreira Almeida,
Murielle Assoun,
Amaya Belanger-Quintana
m.fl.:
Dietary practices in methylmalonic acidaemia: A European survey
Journal of Pediatric Endocrinology & Metabolism (JPEM) 2020 DOI
Alex Pinto,
S Adams,
K Ahring,
H Allen,
MF Almeida,
D Garcia-Arenas
m.fl.:
Weaning practices in phenylketonuria vary between health professionals in Europe
Molecular Genetics and Metabolism Reports 2019 DOI
Alex Pinto,
S Adams,
K Ahring,
H Allen,
MF Almeida,
D Garcia-Arenas
m.fl.:
Early feeding practices in infants with phenylketonuria across Europe
Molecular Genetics and Metabolism Reports 2018 DOI
Anne Daly,
A Pinto,
S Evans,
MF Almeida,
M Assoun,
A Belanger-Quintana
m.fl.:
Dietary practices in propionic acidemia: A European survey
Molecular Genetics and Metabolism Reports 2017 DOI
Armando Pinto,
Anne Daly,
Sharon M. Evans,
Manuela Ferreira Almeida,
Murielle Assoun,
Amaya Bélanger-Quintana
m.fl.:
Dietary practices in isovaleric acidemia: A European survey
Molecular Genetics and Metabolism Reports 2017 DOI
Ana Laissa Aguiar,
K Ahring,
MF Almeida,
M Assoun,
A Belanger Quintana,
S Bigot
m.fl.:
Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach
Molecular Genetics and Metabolism 2015 DOI
Linn Helene Stølen,
Rina Lilje,
Jens Veilemand Jørgensen,
Yngve Thomas Bliksrud,
Runar Almaas
:
High Dietary Folic Acid and High Plasma Folate
in Children and Adults with Phenylketonuria
JIMD Reports 2014 DOI
S. Adam,
Manuela F. Almeida,
Ems C. Carbasius-Weber,
H. Champion,
H. Chan,
Anne Daly
m.fl.:
Dietary practices in pyridoxine non-responsive homocystinuria: A European survey
Molecular Genetics and Metabolism 2013 DOI
Trine Tangeraas,
Paul Hoff Backe,
Berit Woldseth,
Hege Junita Gaup,
Dionne Navarrete,
Asbjørg Stray-Pedersen
m.fl.:
Myopathic form of carnitine palmitoyl transferase type II
deficiency detected by newborn screening
2015
Rina Lilje,
Runar Almaas,
Yngve Thomas Bliksrud,
K Motzfeldt,
J. V. Jørgensen
:
HIGH PLASMA FOLATE LEVELS IN CHILDREN WITH PKU
The Journal of Inherited Metabolic Disease (JIMD) 2010
De 50 siste resultatene fra Cristin vises på siden. Se alle arbeider i Cristin her →