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Climate (im)mobilities in the Eastern Hindu Kush: The case of Lotkuh Valley, Pakistan.
- Published in:
- Population & Environment, 2024, v. 46, n. 1, p. 1, doi. 10.1007/s11111-023-00443-2
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- Publication type:
- Article
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
- Published in:
- Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
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- Publication type:
- Article
Long-Term Socio-Ecological Research in Practice: Lessons from Inter- and Transdisciplinary Research in the Austrian Eisenwurzen.
- Published in:
- Sustainability (2071-1050), 2016, v. 8, n. 8, p. 743, doi. 10.3390/su8080743
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- Publication type:
- Article
Detecting abrupt change in land cover in the eastern Hindu Kush region using Landsat time series (1988–2020).
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- Journal of Mountain Science, 2022, v. 19, n. 6, p. 1699, doi. 10.1007/s11629-021-7297-y
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- Publication type:
- Article
Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.
- Published in:
- FASEB Journal, 2012, v. 26, n. 10, p. 4316, doi. 10.1096/fj.12-206326
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- Publication type:
- Article
Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
- Published in:
- Nutrition Journal, 2013, v. 12, p. 1, doi. 10.1186/1475-2891-12-60
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- Publication type:
- Article
Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
- Published in:
- 2013
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- Publication type:
- journal article
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
- Published in:
- NMR in Biomedicine, 2008, v. 21, n. 2, p. 138, doi. 10.1002/nbm.1170
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- Publication type:
- Article
Organo acidurien/Organic Acidurias.
- Published in:
- 2011
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- Publication type:
- Journal Article
Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures.
- Published in:
- Journal of Pediatric Research, 2016, v. 3, n. 2, p. 113, doi. 10.4274/jpr.25338
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- Publication type:
- Article
Tekrarlayan ketoasidoz atakları: Keton metabolizma bozuklukluğu olabilir mi?
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2018, v. 8, n. 2, p. 115, doi. 10.5222/buchd.2018.115
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- Publication type:
- Article
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 12, p. 1249, doi. 10.1093/hmg/ddh136
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- Publication type:
- Article
Lessons Learnt from the Revitalisation of Chemical Factory in Marktredwitz and River Banks Downstream: When 'Renaturation' Can Be Harmful.
- Published in:
- Water (20734441), 2022, v. 14, n. 21, p. 3481, doi. 10.3390/w14213481
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- Publication type:
- Article
Permafrost distribution and conditions at the headwalls of two receding glaciers (Schladming and Hallstatt glaciers) in the Dachstein Massif, Northern Calcareous Alps, Austria.
- Published in:
- Cryosphere, 2020, v. 14, n. 4, p. 1173, doi. 10.5194/tc-14-1173-2020
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- Publication type:
- Article
Hinge screw or no hinge stabilization provides decreased stability compared to hinge plate in a biomechanical evaluation of distal femoral derotational osteotomies.
- Published in:
- Knee Surgery, Sports Traumatology, Arthroscopy, 2024, v. 32, n. 8, p. 2120, doi. 10.1002/ksa.12251
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- Publication type:
- Article
Advanced Ti–Nb–Ta Alloys for Bone Implants with Improved Functionality.
- Published in:
- Journal of Functional Biomaterials, 2024, v. 15, n. 2, p. 46, doi. 10.3390/jfb15020046
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- Publication type:
- Article
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
- Published in:
- 2004
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- Publication type:
- Directory
Impaired ketone body utilisation as a cause of life-threatening ketoacidosis.
- Published in:
- 2022
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- Publication type:
- letter
Retinoid Signaling by all-trans Retinoic Acid and all-trans Retinoyl-β-D-Glucuronide Is Attenuated by Simultaneous Exposure of Human Keratinocytes to Retinol.
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- Journal of Investigative Dermatology, 1999, v. 112, n. 2, p. 157, doi. 10.1046/j.1523-1747.1999.00496.x
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- Publication type:
- Article
Topical Retinaldehyde Increases Skin Content of Retinoic Acid and Exerts Biologic Activity in Mouse Skin.
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- Journal of Investigative Dermatology, 1996, v. 107, n. 5, p. 714, doi. 10.1111/1523-1747.ep12365603
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- Publication type:
- Article
Analysing the impacts of extreme torrential events using multi‐temporal LiDAR datasets—The Schöttlbach catchment, Upper Styria, Austria.
- Published in:
- Earth Surface Processes & Landforms, 2024, v. 49, n. 9, p. 2809, doi. 10.1002/esp.5859
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- Publication type:
- Article
Comparability of multi‐temporal DTMs derived from different LiDAR platforms: Error sources and uncertainties in the application of geomorphic impact studies.
- Published in:
- Earth Surface Processes & Landforms, 2023, v. 48, n. 6, p. 1152, doi. 10.1002/esp.5540
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- Publication type:
- Article
Simulation of moisture content in alpine rockwalls during freeze-thaw events.
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- Earth Surface Processes & Landforms, 2016, v. 41, n. 13, p. 1937, doi. 10.1002/esp.3961
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- Publication type:
- Article
A multi-method investigation of temperature, moisture and salt dynamics in tafoni (Tafraoute, Morocco).
- Published in:
- Earth Surface Processes & Landforms, 2016, v. 41, n. 4, p. 473, doi. 10.1002/esp.3838
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- Publication type:
- Article
Disturbance, geomorphic processes and recovery of wildfire slopes in North Tyrol.
- Published in:
- Earth Surface Processes & Landforms, 2012, v. 37, n. 8, p. 883, doi. 10.1002/esp.3221
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- Publication type:
- Article
Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.
- Published in:
- Pediatric Nephrology, 1999, v. 13, n. 9, p. 912, doi. 10.1007/s004670050726
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- Publication type:
- Article
Arrested Succession on Fire-Affected Slopes in the Krummholz Zone and Subalpine Forest of the Northern Limestone Alps.
- Published in:
- Diversity (14242818), 2024, v. 16, n. 7, p. 366, doi. 10.3390/d16070366
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- Publication type:
- Article
Screening for hypophosphatasia: does biochemistry lead the way?
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 2, p. 169, doi. 10.1515/jpem-2021-0104
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- Publication type:
- Article
When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1121, doi. 10.1515/jpem-2017-0177
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- Publication type:
- Article
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
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- Turkish Journal of Pediatrics, 2017, v. 59, n. 4, p. 471, doi. 10.24953/turkjped.2017.04.016
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- Publication type:
- Article
A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
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- EMBO Molecular Medicine, 2010, v. 2, n. 2, p. 51, doi. 10.1002/emmm.200900055
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- Publication type:
- Article
Amino Acids Regulate Transgene Expression in MDCK Cells.
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- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096823
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- Publication type:
- Article
System Shift? Geomorphological system response following two extreme torrential events (Schöttlbachtal, Austria).
- Published in:
- Geophysical Research Abstracts, 2019, v. 21, p. 1
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- Publication type:
- Article
Daily to sub-daily rainfall thresholds and the importance of convective weather types for predicting torrent hazards in Styria, Austria.
- Published in:
- Geophysical Research Abstracts, 2018, v. 20, p. 9302
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- Publication type:
- Article
Modelling climate induced geomorphic changes in two small Austrian alpine catchments using CAESAR-Lisflood.
- Published in:
- Geophysical Research Abstracts, 2018, v. 20, p. 9162
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- Publication type:
- Article
Assessment of land-use change and water allocation in the Tafilalt Oasis, Morocco.
- Published in:
- Geophysical Research Abstracts, 2018, v. 20, p. 8013
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- Publication type:
- Article
Modelling future runoff and sediment transport in alpine torrents.
- Published in:
- Geophysical Research Abstracts, 2018, v. 20, p. 3583
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- Publication type:
- Article
Using infrared thermography to assess micro-climatic variations at alpine rockwalls.
- Published in:
- Geophysical Research Abstracts, 2018, v. 20, p. 3386
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- Publication type:
- Article
Temporal variability and site specificity of thermomechanical weathering in a temperate climate.
- Published in:
- Frontiers in Earth Science, 2024, p. 1, doi. 10.3389/feart.2024.1318747
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- Publication type:
- Article
Refixation of the anterior cruciate ligament: A biomechanical analysis of suture techniques in a porcine model.
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- Journal of Experimental Orthopaedics, 2024, v. 11, n. 1, p. 1, doi. 10.1002/jeo2.12011
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- Publication type:
- Article
Genetic basis of hyperlysinemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-57
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- Publication type:
- Article
Genetic basis of hyperlysinemia.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 598, doi. 10.1002/jimd.12730
- By:
- Publication type:
- Article
In memoriam Willy Lehnert.
- Published in:
- 2023
- By:
- Publication type:
- Obituary
3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486
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- Publication type:
- Article
Biomarkers for drug development in propionic and methylmalonic acidemias.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 132, doi. 10.1002/jimd.12478
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- Publication type:
- Article
3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1323, doi. 10.1002/jimd.12410
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- Publication type:
- Article
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370
- By:
- Publication type:
- Article
Toshiyuki Fukao.
- Published in:
- 2020
- By:
- Publication type:
- Obituary
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 187, doi. 10.1007/s10545-018-0138-7
- By:
- Publication type:
- Article