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BMJ Case Reports
|
April 2, 2014
Methylmalonic acidaemia in pregnancy
Yves Jacquemyn, Marieke Den Hartog, Francois Eyskens
Case Reports in Pathology
|
June 20, 2020
Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis
Sasha Libbrecht, Francois Eyskens, Sabine Declercq, et al.
American Journal of Human Genetics
|
December 31, 2005
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome
Jaak Jaeken, Kevin Martens, Inge Francois, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia
James R Bonham, Rachel S Carling, Martin Lindner, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
Plos One
|
August 8, 2015
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
David G Warnock, Daniel G Bichet, Myrl Holida, et al.
Orphanet Journal of Rare Diseases
|
December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
December 18, 2019
Dietary practices in methylmalonic acidaemia: a European survey
Alex Pinto, Sharon Evans, Anne Daly, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
BMJ Case Reports
|
April 2, 2014
Methylmalonic acidaemia in pregnancy
Yves Jacquemyn, Marieke Den Hartog, Francois Eyskens
Case Reports in Pathology
|
June 20, 2020
Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis
Sasha Libbrecht, Francois Eyskens, Sabine Declercq, et al.
American Journal of Human Genetics
|
December 31, 2005
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome
Jaak Jaeken, Kevin Martens, Inge Francois, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia
James R Bonham, Rachel S Carling, Martin Lindner, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
Plos One
|
August 8, 2015
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
David G Warnock, Daniel G Bichet, Myrl Holida, et al.
Orphanet Journal of Rare Diseases
|
December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
December 18, 2019
Dietary practices in methylmalonic acidaemia: a European survey
Alex Pinto, Sharon Evans, Anne Daly, et al.
Page
of 1