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PubPharm (36)
1
Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients
enthalten in:
Pharmaceutics
| 2023
von
Klank, S.
|
van Stein, C.
|
Grüneberg, M.
| +6
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2
Dietary Mannose Supplementation in Phosphomannomutase 2 Deficiency (PMM2-CDG)
enthalten in:
ResearchSquare.com
| 2022
von
Taday, R.
|
Grüneberg, M.
|
DuChesne, I.
| +2
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3
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
enthalten in:
ResearchSquare.com
| 2022
von
Taday, R.
|
Grüneberg, M.
|
DuChesne, I.
| +2
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4
Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient
enthalten in:
Liver international : official journal of the International Association for the Study of the Liver
| 2021
von
Gunzer, S.
|
Kraus, A.
|
Buchroth, I.
| +6
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5
A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis
enthalten in:
Orphanet journal of rare diseases
| 2021
von
van Stein, C.
|
Klank, S.
|
Grüneberg, M.
| +5
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6
A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis
enthalten in:
Orphanet journal of rare diseases
| 2021
von
van Stein, C.
|
Klank, S.
|
Grüneberg, M.
| +5
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7
Mannose supplementation in PMM2-CDG
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Taday, R.
|
Park, J.
|
Grüneberg, M.
| +3
CommentOn: Orphanet J Rare Dis. 2020 Sep 22;15(1):258. - PMID 32962735
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8
Mannose supplementation in PMM2-CDG
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Taday, R.
|
Park, J.
|
Grüneberg, M.
| +3
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9
Translational balancing questioned : Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG)
enthalten in:
JIMD reports
| 2021
von
Kemme, L.
|
Grüneberg, M.
|
Reunert, J.
| +6
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10
A Comparison of Immediate Release and Delayed Release Cysteamine in 17 Patients with Nephropathic Cystinosis
enthalten in:
ResearchSquare.com
| 2021
von
Stein, C.
|
Klank, S.
|
Grüneberg, M.
| +5
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36
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Zeitschriftentitel
7
Orphanet journal of rare diseases
4
Molecular genetics and metabolism reports
3
ResearchSquare.com
2
American journal of human genetics
2
American journal of medical genetics. Part A
2
Clinical biochemistry
2
JIMD reports
1
Alcohol and alcoholism (Oxford, Oxfordshire)
1
Brain : a journal of neurology
1
Clinica chimica acta
1
Clinica chimica acta; international journal of ...
1
Clinical immunology (Orlando, Fla.)
1
Genetics in medicine : official journal of the ...
1
JIMD Reports
1
Journal of Inherited Metabolic Disease
1
Journal of chromatography. B, Analytical techno...
1
Journal of inherited metabolic disease
1
Journal of nutrition and metabolism
1
Liver International
1
Liver international : official journal of the I...
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Thema
21
Journal Article
8
Case Reports
6
Therapy
5
Mannose
5
PMM2
5
Transferrin
4
Congenital disorder of glycosylation (CDG)
4
Congenital disorders of glycosylation
4
Galactose
4
Glycoprotein profile
3
42Z2K6ZL8P
3
Cation Transport Proteins
3
Congenital disorder of glycosylation
3
Glycosylation
3
Isoelectric focusing
3
Manganese
3
Mass spectrometry
3
Research Support, Non-U.S. Gov't
3
SLC39A8 protein, human
2
570
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Erscheinungszeitraum
22
2020-
14
2010-2019
Erscheinungsjahr(e)
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Sprache
32
Englisch
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