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PubPharm (17)
1
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
enthalten in:
Molecular genetics and metabolism
| 2024
von
Hammann, N.
|
Lenz, D.
|
Baric, I.
| +32
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2
Utilization of volumetric absorptive microsampling and dried plasma spot for quantification of anti-fungal triazole agents in pediatric patients by using liquid chromatography-tandem mass spectrometry
enthalten in:
Journal of pharmaceutical and biomedical analysis
| 2023
von
Simeoli, R.
|
Cairoli, S.
|
Galaverna, F.
| +8
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3
Screening for lysosomal diseases in a selected pediatric population : the case of Gaucher disease and acid sphingomyelinase deficiency
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Di Rocco, M.
|
Vici, C.
|
Burlina, A.
| +7
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4
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Di Rocco, M.
|
Vici, C.
|
Burlina, A.
| +7
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5
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Di Rocco, M.
|
Vici, C.
|
Burlina, A.
| +7
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6
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia : A multicenter analysis
enthalten in:
Molecular genetics and metabolism
| 2022
von
Dello Strologo, L.
|
Spada, M.
|
Vici, C.
| +31
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7
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia : a multicenter analysis
enthalten in:
Molecular genetics and metabolism
| 11 October 2022
von
Dello Strologo, L.
|
Spada, M.
|
Vici, C.
| +31
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8
Organ donation from patients with a rare disease is often safe : the italian guidelines
enthalten in:
Clinical transplantation
| 2022
von
Dallapiccola, B.
|
Moriconi, S.
|
Rugge, M.
| +12
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9
U-IMD: The first Unified European registry for Inherited Metabolic Diseases
enthalten in:
ResearchSquare.com
| 2022
von
Opladen, T.
|
Gleich, F.
|
Kozich, V.
| +8
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10
U-IMD: The first Unified European registry for Inherited Metabolic Diseases
enthalten in:
ResearchSquare.com
| 2022
von
Opladen, T.
|
Gleich, F.
|
Kozich, V.
| +8
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17
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Zeitschriftentitel
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Orphanet journal of rare diseases
3
Molecular genetics and metabolism
3
ResearchSquare.com
1
Clinical Transplantation
1
Clinical transplantation
1
Digestive and liver disease : official journal ...
1
Human mutation
1
JPEN. Journal of parenteral and enteral nutrition
1
Journal of parenteral and enteral nutrition
1
Journal of pharmaceutical and biomedical analysis
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Thema
8
Journal Article
3
570
3
Acid Sphingomyelinase Deficiency
3
Biology
3
Gaucher Disease
3
Lysosomal Storage Diseases
3
Research Support, Non-U.S. Gov't
3
Selected population screening
3
Splenomegaly
2
Combined liver-kidney transplantation
2
Estimated glomerular filtration rate
2
Kidney transplantation
2
Liver transplantation
2
Methylmalonic acid
2
Methylmalonic acidemia
1
8LL8S712J7
1
Alagille syndrome
1
Anti-fungal agents
1
Biliary atresia
1
Case Reports
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Erscheinungszeitraum
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2020-
4
2010-2019
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