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Orphanet Journal of Rare Diseases
|
July 1, 2016
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
Willem G van Ginkel, Rianne Jahja, Stephan C J Huijbregts, et al.
European Journal of Pediatrics
|
January 15, 2013
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Heidi Schaballie, Marleen Renard, Christiane Vermylen, et al.
JIMD Reports
|
September 17, 2014
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up
L van der Tol, David Cassiman, Gunnar Houge, et al.
Haematologica
|
May 13, 2017
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
Shirleny R Cardoso, Alicia C M Ellison, Amanda J Walne, et al.
Molecular Genetics and Metabolism Reports
|
May 20, 2020
Kidney and vascular function in adult patients with hereditary fructose intolerance
Nynke Simons, François-Guillaume Debray, Nicolaas C Schaper, et al.
Hepatology (Baltimore, Md.)
|
March 5, 2011
Noncirrhotic presinusoidal portal hypertension is common in cystic fibrosis-associated liver disease
Peter Witters, Louis Libbrecht, Tania Roskams, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
April 17, 2026
Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria Registry
Carl M Baravelli, Sverre Sandberg, Marte H Hammersland, et al.
JHEP Reports : Innovation in Hepatology
|
March 14, 2026
Evaluation of novel assays of non-ceruloplasmin copper to monitor chelation treatment in patients with Wilson disease: Monitoring chelation treatment in Wilson disease
Peter Ott, Thomas Sandahl, Aftab Ala, et al.
Fertility and Sterility
|
June 6, 2017
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
Britt van Erven, Gerard T Berry, David Cassiman, et al.
Gut
|
June 12, 2014
Roux-en-y gastric bypass attenuates hepatic mitochondrial dysfunction in mice with non-alcoholic steatohepatitis
Jef Verbeek, Matthias Lannoo, Eija Pirinen, et al.
Page
of 21
Search research articles
Search
Showing results (151-160 of 201) with videos related to
Sort By:
Page
of 21
Orphanet Journal of Rare Diseases
|
July 1, 2016
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
Willem G van Ginkel, Rianne Jahja, Stephan C J Huijbregts, et al.
European Journal of Pediatrics
|
January 15, 2013
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Heidi Schaballie, Marleen Renard, Christiane Vermylen, et al.
JIMD Reports
|
September 17, 2014
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up
L van der Tol, David Cassiman, Gunnar Houge, et al.
Haematologica
|
May 13, 2017
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
Shirleny R Cardoso, Alicia C M Ellison, Amanda J Walne, et al.
Molecular Genetics and Metabolism Reports
|
May 20, 2020
Kidney and vascular function in adult patients with hereditary fructose intolerance
Nynke Simons, François-Guillaume Debray, Nicolaas C Schaper, et al.
Hepatology (Baltimore, Md.)
|
March 5, 2011
Noncirrhotic presinusoidal portal hypertension is common in cystic fibrosis-associated liver disease
Peter Witters, Louis Libbrecht, Tania Roskams, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
April 17, 2026
Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria Registry
Carl M Baravelli, Sverre Sandberg, Marte H Hammersland, et al.
JHEP Reports : Innovation in Hepatology
|
March 14, 2026
Evaluation of novel assays of non-ceruloplasmin copper to monitor chelation treatment in patients with Wilson disease: Monitoring chelation treatment in Wilson disease
Peter Ott, Thomas Sandahl, Aftab Ala, et al.
Fertility and Sterility
|
June 6, 2017
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
Britt van Erven, Gerard T Berry, David Cassiman, et al.
Gut
|
June 12, 2014
Roux-en-y gastric bypass attenuates hepatic mitochondrial dysfunction in mice with non-alcoholic steatohepatitis
Jef Verbeek, Matthias Lannoo, Eija Pirinen, et al.
Page
of 21