A. Skouma

发表

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

V. Rubio, H. Mandel, J. Häberle, 2019, Journal of inherited metabolic disease.

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

R. Carrozzo, F. Tort, A. Ribes, 2020, Journal of inherited metabolic disease.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

Galactose epimerase deficiency: lessons from the GalNet registry

D. Timson, M. Gautschi, M. Couce, 2022, Orphanet Journal of Rare Diseases.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

The Genetic Landscape and Epidemiology of Phenylketonuria.

V. Stoppioni, J. Vockley, B. Burton, 2020, American journal of human genetics.

Galactokinase deficiency: lessons from the GalNet registry

I. Rivera, P. Verloo, D. Timson, 2020, Genetics in Medicine.

True Restriction in Diffusion-Weighted Imaging in a Mistreated Patient With Phenylketonuria.

G. Tsivgoulis, A. Skouma, Georgia Papagiannopoulou, 2020, The neurologist.

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

P. Tanpaiboon, A. Skouma, M. Brouwers, 2024, Frontiers in Genetics.