Autor: Latest Results
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Analysis of homocysteine levels in carriers with MMACHC gene variants
Objective Methods Results Conclusion …
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Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias
Background Methods Results Conclusions …
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Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias
Background Methods Results Conclusions …
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Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group
Background Results Conclusions
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Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification
Background Methods Results Conclusions …
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Cognitive function in adult NF1 patients without other cognitive disorders: a cross-sectional study
Background Results Conclusions
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Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism
Background Results Conclusions
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Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism
Background Results Conclusions
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Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group
Background Results Conclusions
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Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification
Background Methods Results Conclusions …