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Fabry disease under enzyme replacement therapy—new insights in efficacy of different dosages.
- Published in:
- Nephrology Dialysis Transplantation, 2018, v. 33, n. 8, p. 1362, doi. 10.1093/ndt/gfx319
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- Publication type:
- Article
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 674, doi. 10.1002/jimd.12731
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- Publication type:
- Article
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1043, doi. 10.1002/jimd.12671
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- Publication type:
- Article
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1063, doi. 10.1002/jimd.12653
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- Publication type:
- Article
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 15, doi. 10.1002/jimd.12563
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- Publication type:
- Article
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1070, doi. 10.1002/jimd.12544
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- Publication type:
- Article
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 857, doi. 10.1002/jimd.12364
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- Publication type:
- Article
Potential role of vitamin D deficiency on Fabry cardiomyopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 289, doi. 10.1007/s10545-013-9653-8
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- Publication type:
- Article
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
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- Publication type:
- Article
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
- Published in:
- 2021
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- Publication type:
- Correction Notice
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
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- Publication type:
- Article
Hypoglykämien und Krampfanfälle bei einer 32‑jährigen Patientin mit Ahornsiruperkrankung.
- Published in:
- Der Internist, 2020, v. 61, n. 3, p. 321, doi. 10.1007/s00108-019-00726-7
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- Publication type:
- Article
Left Ventricular Strain Analysis During Submaximal Semisupine Bicycle Exercise Stress Echocardiography in Childhood Cancer Survivors.
- Published in:
- 2022
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- Publication type:
- journal article
Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00972
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- Publication type:
- Article
Left ventricular strain and strain rate during submaximal semisupine bicycle exercise stress echocardiography in childhood cancer survivors.
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- Cardiology in the Young, 2022, v. 32, p. S90
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- Publication type:
- Article
Left ventricular strain and strain rate during submaximal semisupine bicycle exercise stress echocardiography in childhood cancer survivors.
- Published in:
- Cardiology in the Young, 2022, v. 32, n. S2, p. S90, doi. 10.1017/S1047951122001950
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- Article
Nachhaltige Energiekonzepte in der Pharmaindustrie.
- Published in:
- TechnoPharm, 2023, v. 13, n. 5, p. 226
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- Publication type:
- Article
Nachhaltige Energiekonzepte in der Pharmaindustrie.
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- TechnoPharm, 2023, v. 13, n. 4, p. 226
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- Publication type:
- Article
Case Study: Kalibrierung 4.0: Innovative Kalibrierkonzepte – Teil 2*).
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- TechnoPharm, 2022, v. 12, n. 3, p. 160
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- Publication type:
- Article
Case Study: Kalibrierung 4.0.
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- TechnoPharm, 2022, v. 12, n. 2, p. 70
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- Publication type:
- Article
Errichtung einer neuen Bulk- Produktion: Der Weg von der Altanlage zu einer neuen, hochmodernen Anlage - Teil 2.
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- TechnoPharm, 2019, v. 9, n. 4, p. 220
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- Publication type:
- Article
Errichtung einer neuen BulkProduktion: Der Weg von der Altanlage zu einer neuen, hochmodernen Anlage – Teil 1.
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- TechnoPharm, 2019, v. 9, n. 3, p. 130
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- Publication type:
- Article
Fallstudie CSL Behring: Teil 2: Schutzmaßnahmen bei Umbau während der laufenden Produktion.
- Published in:
- TechnoPharm, 2016, v. 6, n. 1, p. 18
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- Publication type:
- Article
Fallstudie CSL Behring.
- Published in:
- TechnoPharm, 2015, v. 5, n. 6, p. 308
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- Publication type:
- Article
High-Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease.
- Published in:
- 2016
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- Publication type:
- journal article
Identification of Phase Fraction–Temperature Curves from Heat Capacity Data for Numerical Modeling of Heat Transfer in Commercial Paraffin Waxes.
- Published in:
- Energies (19961073), 2020, v. 13, n. 19, p. 5149, doi. 10.3390/en13195149
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- Publication type:
- Article
Das NF1‐Mikrodeletions‐Syndrom: Die frühzeitige genetische Diagnose erleichtert den Umgang mit einer klinisch definierten Erkrankung.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 3, p. 273, doi. 10.1111/ddg.14707_g
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- Publication type:
- Article
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 3, p. 273, doi. 10.1111/ddg.14707
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- Publication type:
- Article
Left Ventricular Geometry and Blood Pressure as Predictors of Adverse Progression of Fabry Cardiomyopathy.
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- PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0140627
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- Publication type:
- Article
GMP-Compliance in der Technik.
- Published in:
- Pharmazeutische Industrie (Pharmind), 2006, v. 68, n. 5, p. 636
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- Publication type:
- Article
Dissolution Testing in Drug Product Development: Workshop Summary Report.
- Published in:
- AAPS Journal, 2019, v. 21, n. 2, p. 1, doi. 10.1208/s12248-018-0288-4
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- Publication type:
- Article
Flame Retardancy of Polymers: The Role of Specific Reactions in the Condensed Phase.
- Published in:
- Macromolecular Materials & Engineering, 2016, v. 301, n. 1, p. 9, doi. 10.1002/mame.201500250
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- Publication type:
- Article
A New Halogen-Free Flame Retardant Based on 9,10-Dihydro-9-oxa-10-phosphaphenanthrene-10-oxide for Epoxy Resins and their Carbon Fiber Composites for the Automotive and Aviation Industries.
- Published in:
- Macromolecular Materials & Engineering, 2011, v. 296, n. 1, p. 14, doi. 10.1002/mame.201000242
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- Publication type:
- Article
Trennleistung von Packungen bei der Dreiphasenrektifikation.
- Published in:
- Chemie Ingenieur Technik (CIT), 1995, v. 67, n. 7, p. 888, doi. 10.1002/cite.330670714
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- Publication type:
- Article
Wartung und Instandhaltung von Pharmawasseranlagen.
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- Pharmazeutische Industrie (Pharmind), 2018, v. 80, n. 8, p. 1134
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- Publication type:
- Article
Wartung und Instandhaltung von Pharmawasseranlagen: Teil 1.
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- Pharmazeutische Industrie (Pharmind), 2018, v. 80, n. 6, p. 850
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- Publication type:
- Article
NR4A2 and Dystonia with Dopa Responsiveness.
- Published in:
- 2021
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- Publication type:
- Case Study
Development of deoxynivalenol contents in relation to the PCR detection of potentially trichothecene producing Fusarium spp. during storage of wheat.
- Published in:
- Mycotoxin Research, 2000, v. 16, p. 46, doi. 10.1007/BF02942979
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- Publication type:
- Article
Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease.
- Published in:
- European Heart Journal, 2013, v. 34, n. 21, p. 1587, doi. 10.1093/eurheartj/eht098
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- Publication type:
- Article
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Impact of the Right Ventricular Sokolow-Lyon Index in Children with Idiopathic Pulmonary Arterial Hypertension.
- Published in:
- Pediatric Cardiology, 2018, v. 39, n. 6, p. 1115, doi. 10.1007/s00246-018-1862-3
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- Publication type:
- Article
Evaluation of the Transport and Binding of Dopamine-Loaded PLGA Nanoparticles for the Treatment of Parkinson's Disease Using In Vitro Model Systems.
- Published in:
- Pharmaceutics, 2024, v. 16, n. 5, p. 571, doi. 10.3390/pharmaceutics16050571
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- Publication type:
- Article
Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease.
- Published in:
- BMC Nephrology, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2369-15-188
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- Publication type:
- Article
Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article