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PubPharm (387)
1
Natural history of three late-diagnosed classic Galactosemia patients
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Quelhas, D.
|
Kingma, S.
|
Jonckheere, A.
| +9
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2
Instrumented assessment of gait disturbance in PMM2-CDG adults : a feasibility analysis
enthalten in:
Orphanet journal of rare diseases
| 2024
von
Cirnigliaro, L.
|
Pettinato, F.
|
Valle, M.
| +8
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3
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis
enthalten in:
Orphanet journal of rare diseases
| 2024
von
Cirnigliaro, L.
|
Pettinato, F.
|
Valle, M.
| +8
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4
Congenital disorders of glycosylation (CDG) : state of the art in 2022
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Francisco, R.
|
Brasil, S.
|
Poejo, J.
| +4
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5
Congenital disorders of glycosylation (CDG): state of the art in 2022
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Francisco, R.
|
Brasil, S.
|
Poejo, J.
| +4
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6
Congenital disorders of glycosylation : narration of a story through its patents
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Monticelli, M.
|
D'Onofrio, T.
|
Jaeken, J.
| +3
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7
Congenital disorders of glycosylation: narration of a story through its patents
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Monticelli, M.
|
D’Onofrio, T.
|
Jaeken, J.
| +3
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8
Congenital disorders of glycosylation: narration of a story through its patents
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Monticelli, M.
|
D’Onofrio, T.
|
Jaeken, J.
| +3
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9
Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)
enthalten in:
JIMD reports
| 2023
von
Altassan, R.
|
Albert-Brotons, D.
|
Alowain, M.
| +3
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10
A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases : A Model Transferable across Diseases
enthalten in:
International journal of environmental research and public health
| 2023
von
Falcão, M.
|
Allocca, M.
|
Rodrigues, A.
| +12
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Journal of inherited metabolic disease
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Orphanet journal of rare diseases
16
American journal of human genetics
16
European journal of human genetics : EJHG
11
Molecular genetics and metabolism
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Biochimica et biophysica acta
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Glycoconjugate journal
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Human molecular genetics
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Human mutation
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JIMD reports
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Journal of Inherited Metabolic Disease
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European journal of medical genetics
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Human genetics <Berlin>
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Journal of child neurology
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CDG
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EC 2.4.1.-
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Research Support, N.I.H., Extramural
16
Membrane Proteins
16
Transferrin
15
EC 5.4.2.-
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Phosphotransferases (Phosphomutases)
14
Glycoproteins
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Letter
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Congenital disorder(s) of glycosylation
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Polysaccharides
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Biomarkers
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Galactosemia
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congenital disorders of glycosylation
9
Adaptor Proteins, Vesicular Transport
9
EC 5.4.2.8
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