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PubPharm (433)
1
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Posset, R.
|
Garbade, S.
|
Gleich, F.
| +58
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2
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia : Metabolic susceptibility and the role of immunosuppression
enthalten in:
JIMD reports
| 2024
von
Burlina, A.
|
Burlina, A.
|
Mignani, R.
| +6
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3
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy : An Italian model (expert opinion)
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Scala, I.
|
Brodosi, L.
|
Rovelli, V.
| +2
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4
Efficacy and safety of sapropterin before and during pregnancy : Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries
enthalten in:
Journal of inherited metabolic disease
| 2024
von
Feillet, F.
|
Ficicioglu, C.
|
Lagler, F.
| +12
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5
Management of phenylketonuria in European PKU centres remains heterogeneous
enthalten in:
Molecular genetics and metabolism
| 2024
von
Ahring, K.
|
Bélanger-Quintana, A.
|
Burlina, A.
| +5
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6
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
enthalten in:
Frontiers in genetics
| 2024
von
Panis, B.
|
Vos, E.
|
Barić, I.
| +32
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7
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy
enthalten in:
Preprints.org
| 2024
von
Gragnaniello, V.
|
Cazzorla, C.
|
Gueraldi, D.
| +8
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8
Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia : Metabolic susceptibility and the role of immunosuppression
enthalten in:
JIMD Reports
| 2024
von
Burlina, A.
|
Burlina, A.
|
Mignani, R.
| +6
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9
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders : Eight Years of Experience in Northeast Italy
enthalten in:
International journal of neonatal screening
| 2023
von
Gragnaniello, V.
|
Cazzorla, C.
|
Gueraldi, D.
| +8
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10
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria
enthalten in:
Pharmacological research
| 2023
von
Parolisi, S.
|
Montanari, C.
|
Borghi, E.
| +12
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Journal of inherited metabolic disease
49
Orphanet journal of rare diseases
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The Italian journal of pediatrics
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European journal of pediatrics
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Human mutation
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International journal of neonatal screening
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Journal of Inherited Metabolic Disease
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American journal of human genetics
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sapropterin
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EGX657432I
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tandem mass spectrometry
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Newborn screening
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