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/vufind/Search/Results?lookfor=%22Schwahn%2C+Bernd+C%22&type=Person&sort=year
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PubPharm (44)
1
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
enthalten in:
Journal of inherited metabolic disease
| 2024
von
Schwahn, B.
|
van Spronsen, F.
|
Misko, A.
| +9
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2
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
enthalten in:
Redox biology
| 2022
von
Kožich, V.
|
Schwahn, B.
|
Sokolová, J.
| +25
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3
Molybdenum cofactor deficiency : A natural history
enthalten in:
Journal of inherited metabolic disease
| 2022
von
Spiegel, R.
|
Schwahn, B.
|
Squires, L.
| +1
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4
Molybdenum cofactor deficiency : A natural history
enthalten in:
Journal of Inherited Metabolic Disease
| 2022
von
Spiegel, R.
|
Schwahn, B.
|
Squires, L.
| +1
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5
Cystathionine β-synthase deficiency in the E-HOD registry-part I : pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
enthalten in:
Journal of inherited metabolic disease
| 2021
von
Kožich, V.
|
Sokolová, J.
|
Morris, A.
| +70
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6
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation : Four new cases and a review of the evidence
enthalten in:
JIMD reports
| 2020
von
Schwahn, B.
|
Scheffner, T.
|
Stepman, H.
| +8
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7
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation : Four new cases and a review of the evidence
enthalten in:
JIMD Reports
| 2020
von
Schwahn, B.
|
Scheffner, T.
|
Stepman, H.
| +8
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8
Human Mitochondrial HMG-CoA Synthase Deficiency : Role of Enzyme Dimerization Surface and Characterization of Three New Patients
enthalten in:
International journal of molecular sciences
| 2018
von
Puisac, B.
|
Marcos-Alcalde, I.
|
Hernández-Marcos, M.
| +7
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9
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
enthalten in:
Archives of disease in childhood
| 2017
von
Ghosh, A.
|
Schlecht, H.
|
Heptinstall, L.
| +22
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10
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A : a prospective cohort study
enthalten in:
Lancet (London, England)
| 2015
von
Schwahn, B.
|
Van Spronsen, F.
|
Belaidi, A.
| +17
CommentIn: Lancet. 2015 Nov 14;386(10007):1924-5. - PMID 26343841
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Journal of inherited metabolic disease
3
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Thema
20
Journal Article
15
Research Support, Non-U.S. Gov't
9
3SCV180C9W
9
Betaine
7
Homocysteine
5
Case Reports
5
EC 1.5.1.20
4
0LVT1QZ0BA
4
Methylenetetrahydrofolate Reductase (NADPH2)
3
Betaine-Homocysteine S-Methyltransferase
3
EC 2.1.1.5
3
Methionine Level
3
Onset Patient
3
Severity Score
3
Total Homocysteine
2
-carbamylglutamate
2
7797M4CPPA
2
AE28F7PNPL
2
Choline
2
Cystathionine beta-Synthase
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Erscheinungszeitraum
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2020-
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