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Gert Matthijs
Gert Matthijs
Great Ormond Street Hospital
Genetics
Phosphomannomutase
Biology
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2
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40
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2024
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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency
2002
Human Molecular Genetics
Vibeke Westphal
Susanne Kjaergaard
Els Schollen
Kevin Martens
Stephanie Grünewald
Marianne Schwartz
Gert Matthijs
Hudson H. Freeze
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Citations (40)
MINIREVIEW Phosphomannomutase Deficiency: The Molecular Basis of the Classical Jaeken Syndrome (CDGS Type Ia)
1999
Gert Matthijs
Els Schollen
Leen Heykants
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