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Article: Mensendieck-sykegymnastikkens plass i fysikalsk behandling i dag.

Malm, M

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke

1969 Volume 89, Issue 1, Page(s) 17

Title translation	The role of Mensendieck-exercise therapy in physiotherapy today.
MeSH term(s)	Exercise Therapy ; Humans ; Methods ; Norway
Language	Norwegian
Publishing date	1969-01-01
Publishing country	Norway
Document type	Journal Article
ZDB-ID	603504-8
ISSN	0807-7096 ; 0029-2001
ISSN (online)	0807-7096
ISSN	0029-2001
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Article: Environmental Flow Scenarios for a Regulated River System: Projecting Catchment‐Wide Ecosystem Benefits and Consequences for Hydroelectric Production

Widén, Åsa / Malm Renöfält, Birgitta / Degerman, Erik / Wisaeus, Dag / Jansson, Roland

Water resources research. 2022 Jan., v. 58, no. 1

2022

Abstract: To enable prioritization among measures for ecological restoration, knowing the expected benefits and consequences of implementation is imperative but rarely explicitly quantified. We developed a novel method to prioritize among environmental flow ... ...

Abstract	To enable prioritization among measures for ecological restoration, knowing the expected benefits and consequences of implementation is imperative but rarely explicitly quantified. We developed a novel method to prioritize among environmental flow measures to rehabilitate ecosystems in the Ume River catchment in northern Sweden, a river system heavily regulated for hydropower production. Our strategy was to identify measures with minimal impact on hydropower production while providing substantial environmental benefits. Based on field surveys of remaining natural values and potential for ecological rehabilitation, we quantified the projected gain in habitat area of implementing environmental flows for target organism groups, for example, lotic fish species and riparian vegetation, along the whole river length. We quantified the consequences for hydropower production by identifying a set of hydropower operational rules reflecting the constraints added by environmental flows. We then used production optimization software to calculate changes in hydropower production and revenues. Implementing restrictions on zero‐flow events by mandating minimum discharge at all run‐of‐river hydropower stations and allocating 1%–12% of mean annual discharge to bypassed reaches in the entire catchment would result in a 2.1% loss of annual electricity production. Adding flow to fishways would increase the loss to 3.1% per year. With implementation of more natural water‐level fluctuations in run‐of‐river impoundments, the loss increases to 3.8%. These actions would increase the habitat for lotic species like the grayling Thymallus more than threefold and increase the area of riparian vegetation by about 66%. Our method forms a basis for ongoing implementation of nationwide environmental rehabilitation schemes.
Keywords	Thymallus ; computer software ; ecological restoration ; electricity generation ; fish ; fish ladders ; habitats ; lotic systems ; prioritization ; research ; riparian vegetation ; rivers ; water ; water power ; watersheds ; Sweden
Language	English
Dates of publication	2022-01
Publishing place	John Wiley & Sons, Ltd
Document type	Article
Note	JOURNAL ARTICLE
ZDB-ID	5564-5
ISSN	1944-7973 ; 0043-1397
ISSN (online)	1944-7973
ISSN	0043-1397
DOI	10.1029/2021WR030297
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Article ; Online: Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.

Hennermann, Julia B / Raebel, Eva M / Donà, Francesca / Jacquemont, Marie-Line / Cefalo, Graziella / Ballabeni, Andrea / Malm, Dag

Orphanet journal of rare diseases

2022 Volume 17, Issue 1, Page(s) 287

Abstract: Background: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. Clinical manifestations include skeletal dysmorphism, mental impairment, hearing loss and recurrent infections. ...

Abstract	Background: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. Clinical manifestations include skeletal dysmorphism, mental impairment, hearing loss and recurrent infections. The severe type of the disease leads to early childhood death, while patients with milder forms can live into adulthood. There are no mortality studies to date. This study aimed to investigate the age at death and the causes of death of patients with alpha-mannosidosis who had not received disease-modifying treatment. Methods: Clinicians and LSD patient organisations (POs) from 33 countries were invited to complete a questionnaire between April-May 2021. Cause of death and age at death was available for 15 patients. A literature review identified seven deceased patients that met the inclusion criteria. Results: Median age at death for patients reported by clinicians/POs was 45 years (mean 40.3 ± 13.2, range 18-56, n = 15); 53% were female. One death occurred during the patient's second decade of life, and 14 out of 15 deaths (93.3%) during or after the patients' third decade, including four (26.7%) during their sixth decade. Median age at death for patients identified from the literature was 4.3 years (mean 15.7 ± 17.0, range 2.2-41, n = 7); two were female. Four of the seven patients (57.1%) died within the first decade of life. Seven of 15 deaths (46.7%) reported by clinicians/POs were recorded as pneumonia and three (20.0%) as cancer. Other causes of death included acute renal failure due to sepsis after intestinal perforation, decrease of red blood cells of unknown origin, kidney failure with systemic lupus erythematosus, aortic valve insufficiency leading to heart failure, and dehydration due to catatonia. Three out of seven causes of death (42.9%) reported in the literature were associated with septicaemia, two (28.6%) with respiratory failure and one to pneumonia following aspiration. Conclusions: This study suggests that pneumonia has been the primary cause of death during recent decades in untreated patients with alpha-mannosidosis, followed by cancer. Determining the causes of mortality and life expectancy in these patients is crucial to further improve our understanding of the natural history of alpha-mannosidosis.
MeSH term(s)	Adult ; Child, Preschool ; Female ; Hearing Loss ; Humans ; Intellectual Disability ; Lysergic Acid Diethylamide ; Male ; Middle Aged ; alpha-Mannosidase ; alpha-Mannosidosis
Chemical Substances	Lysergic Acid Diethylamide (8NA5SWF92O) ; alpha-Mannosidase (EC 3.2.1.24)
Language	English
Publishing date	2022-07-23
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-022-02422-6
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Article: Let it flow: Modeling ecological benefits and hydropower production impacts of banning zero-flow events in a large regulated river system

Widén, Åsa / Renöfält, Birgitta Malm / Degerman, Erik / Wisaeus, Dag / Jansson, Roland

Science of the total environment. 2021 Aug. 20, v. 783

2021

Abstract: Hydropeaking, defined as rapid and frequent changes in flow to optimize hydropower production, is an increasingly common procedure negatively affecting lotic habitats in riverine ecosystems. An important aspect of hydropeaking is zero-flow events, ... ...

Abstract	Hydropeaking, defined as rapid and frequent changes in flow to optimize hydropower production, is an increasingly common procedure negatively affecting lotic habitats in riverine ecosystems. An important aspect of hydropeaking is zero-flow events, occurring when hydropower stations are stopped due to low energy demand or low electricity prices. We quantified the ecological benefits and consequences for hydropower production of restricting zero-flow events. The 19 major hydropower stations in the Ume River system in northern Sweden stand still with no discharge 9% to 55% of the time a hydrologically normal year, transforming lotic habitat to stagnant water. The duration of zero-flow events is exacerbated in dry years, with no discharge for 28% of the time in a typical station, to be compared with 7% in a wet year. Zero-flow events affect the behavior of fish, altering the fish community, and potentially result in low oxygen levels and low food supply to filter-feeding macroinvertebrates. We modelled the consequences of restricting zero-flow events by introducing minimum flows equaling mean annual low flow or higher for the entire Ume River catchment. The measure would result in an additional 240 ha of shallow lotic habitat with gravel to boulder streambeds having flow velocity exceeding 0.1 m/s, i.e. suitable for lotic species such as grayling Thymallus thymallus. In addition, the measure would enable creating another 107 ha of similar habitat after structural rehabilitation of river reaches. All measures would result in a mean loss of hydropower production of 0.5% per year for the entire river system, 98% of which would occur between May and October when the demand for electricity is lower. Hydropower production would also be partly moved from daytime to nighttime. As zero-flow events are common in several other river systems, restrictions on their frequency and duration could be implemented in many areas.
Keywords	Thymallus thymallus ; electricity ; energy ; environment ; fish ; fish communities ; food availability ; gravel ; habitats ; hydrology ; lotic systems ; macroinvertebrates ; oxygen ; riparian areas ; rivers ; stream channels ; water power ; watersheds ; Sweden
Language	English
Dates of publication	2021-0820
Publishing place	Elsevier B.V.
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	121506-1
ISSN	1879-1026 ; 0048-9697
ISSN (online)	1879-1026
ISSN	0048-9697
DOI	10.1016/j.scitotenv.2021.147010
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Article ; Online: Let it flow: Modeling ecological benefits and hydropower production impacts of banning zero-flow events in a large regulated river system.

Widén, Åsa / Renöfält, Birgitta Malm / Degerman, Erik / Wisaeus, Dag / Jansson, Roland

The Science of the total environment

2021 Volume 783, Page(s) 147010

Abstract	Hydropeaking, defined as rapid and frequent changes in flow to optimize hydropower production, is an increasingly common procedure negatively affecting lotic habitats in riverine ecosystems. An important aspect of hydropeaking is zero-flow events, occurring when hydropower stations are stopped due to low energy demand or low electricity prices. We quantified the ecological benefits and consequences for hydropower production of restricting zero-flow events. The 19 major hydropower stations in the Ume River system in northern Sweden stand still with no discharge 9% to 55% of the time a hydrologically normal year, transforming lotic habitat to stagnant water. The duration of zero-flow events is exacerbated in dry years, with no discharge for 28% of the time in a typical station, to be compared with 7% in a wet year. Zero-flow events affect the behavior of fish, altering the fish community, and potentially result in low oxygen levels and low food supply to filter-feeding macroinvertebrates. We modelled the consequences of restricting zero-flow events by introducing minimum flows equaling mean annual low flow or higher for the entire Ume River catchment. The measure would result in an additional 240 ha of shallow lotic habitat with gravel to boulder streambeds having flow velocity exceeding 0.1 m/s, i.e. suitable for lotic species such as grayling Thymallus thymallus. In addition, the measure would enable creating another 107 ha of similar habitat after structural rehabilitation of river reaches. All measures would result in a mean loss of hydropower production of 0.5% per year for the entire river system, 98% of which would occur between May and October when the demand for electricity is lower. Hydropower production would also be partly moved from daytime to nighttime. As zero-flow events are common in several other river systems, restrictions on their frequency and duration could be implemented in many areas.
Language	English
Publishing date	2021-04-10
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	121506-1
ISSN	1879-1026 ; 0048-9697
ISSN (online)	1879-1026
ISSN	0048-9697
DOI	10.1016/j.scitotenv.2021.147010
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Article ; Online: Clinical utility gene card for: α-mannosidosis.

Nilssen, Øivind / Stensland, Hilde Monica Frostad Riise / Malm, Dag

European journal of human genetics : EJHG

2011 Volume 19, Issue 7

MeSH term(s)	Humans ; Mutation ; Toxoplasmosis, Congenital ; alpha-Mannosidosis/diagnosis ; alpha-Mannosidosis/genetics
Language	English
Publishing date	2011-02-02
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/ejhg.2011.5
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Article ; Online: Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations.

Riise Stensland, Hilde Monica Frostad / Klenow, Helle Bagterp / Nguyen, Lam Van / Hansen, Gaute Martin / Malm, Dag / Nilssen, Øivind

Human mutation

2016 Volume 37, Issue 8, Page(s) 827

Language	English
Publishing date	2016-08
Publishing country	United States
Document type	Journal Article ; Published Erratum
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.23002
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Article ; Online: Alpha-mannosidosis.

Malm, Dag / Nilssen, Øivind

Orphanet journal of rare diseases

2008 Volume 3, Page(s) 21

Abstract: Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are ... ...

Abstract	Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their condition worsens progressively. Some children are born with ankle equinus or develop hydrocephalus in the first year of life. Main features are immune deficiency (manifested by recurrent infections, especially in the first decade of life), skeletal abnormalities (mild-to-moderate dysostosis multiplex, scoliosis and deformation of the sternum), hearing impairment (moderate-to-severe sensorineural hearing loss), gradual impairment of mental functions and speech, and often, periods of psychosis. Associated motor function disturbances include muscular weakness, joint abnormalities and ataxia. The facial trait include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, and prognathism. Slight strabismus is common. The clinical variability is significant, representing a continuum in severity. The disorder is caused by lysosomal alpha-mannosidase deficiency. Alpha-mannosidosis is inherited in an autosomal recessive fashion and is caused by mutations in the MAN2B1 gene located on chromosome 19 (19 p13.2-q12). Diagnosis is made by measuring acid alpha-mannosidase activity in leukocytes or other nucleated cells and can be confirmed by genetic testing. Elevated urinary secretion of mannose-rich oligosaccharides is suggestive, but not diagnostic. Differential diagnoses are mainly the other lysosomal storage diseases like the mucopolysaccharidoses. Genetic counseling should be given to explain the nature of the disease and to detect carriers. Antenatal diagnosis is possible, based on both biochemical and genetic methods. The management should be pro-active, preventing complications and treating manifestations. Infections must be treated frequently. Otolaryngological treatment of fluid in the middle ear is often required and use of hearing aids is invariably required. Early educational intervention for development of social skills is needed and physiotherapy is important to improve bodily function. Orthopedic surgery may be necessary. The long-term prognosis is poor. There is an insidiously slow progression of neuromuscular and skeletal deterioration over several decades, making most patients wheel-chair dependent. No patients manage to be completely socially independent. Many patients are over 50 years of age.
MeSH term(s)	Diagnosis, Differential ; Genetic Counseling ; Humans ; Models, Molecular ; Mutation ; Prognosis ; Protein Conformation ; alpha-Mannosidase/chemistry ; alpha-Mannosidase/genetics ; alpha-Mannosidosis/genetics ; alpha-Mannosidosis/pathology ; alpha-Mannosidosis/therapy
Chemical Substances	alpha-Mannosidase (EC 3.2.1.24)
Language	English
Publishing date	2008-07-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/1750-1172-3-21
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Article ; Online: Alpha-mannosidosis

Nilssen Øivind / Malm Dag

Orphanet Journal of Rare Diseases, Vol 3, Iss 1, p

2008 Volume 21

Abstract: Abstract Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The ... ...

Abstract	Abstract Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their condition worsens progressively. Some children are born with ankle equinus or develop hydrocephalus in the first year of life. Main features are immune deficiency (manifested by recurrent infections, especially in the first decade of life), skeletal abnormalities (mild-to-moderate dysostosis multiplex, scoliosis and deformation of the sternum), hearing impairment (moderate-to-severe sensorineural hearing loss), gradual impairment of mental functions and speech, and often, periods of psychosis. Associated motor function disturbances include muscular weakness, joint abnormalities and ataxia. The facial trait include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, and prognathism. Slight strabismus is common. The clinical variability is significant, representing a continuum in severity. The disorder is caused by lysosomal alpha-mannosidase deficiency. Alpha-mannosidosis is inherited in an autosomal recessive fashion and is caused by mutations in the MAN2B1 gene located on chromosome 19 (19 p13.2-q12). Diagnosis is made by measuring acid alpha-mannosidase activity in leukocytes or other nucleated cells and can be confirmed by genetic testing. Elevated urinary secretion of mannose-rich oligosaccharides is suggestive, but not diagnostic. Differential diagnoses are mainly the other lysosomal storage diseases like the mucopolysaccharidoses. Genetic counseling should be given to explain the nature of the disease and to detect carriers. Antenatal diagnosis is possible, based on both biochemical and genetic methods. The management should be pro-active, preventing complications and treating manifestations. Infections must be treated frequently. Otolaryngological ...
Keywords	Medicine ; R
Subject code	610
Language	English
Publishing date	2008-07-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
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Article ; Online: Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment.

Avenarius, Derk Frederik Matthaus / Svendsen, John-Sigurd / Malm, Dag

Journal of inherited metabolic disease

2011 Volume 34, Issue 5, Page(s) 1023–1027

Abstract: In Alpha-mannosidosis (MIM 248500) the patients accumulate mainly unbranched oligosaccharide chains in the lysosomes in all body tissues, including the brain. With ensuing therapeutic modalities in man (BMT and ERT) non-invasive methods of monitoring the ...

Abstract	In Alpha-mannosidosis (MIM 248500) the patients accumulate mainly unbranched oligosaccharide chains in the lysosomes in all body tissues, including the brain. With ensuing therapeutic modalities in man (BMT and ERT) non-invasive methods of monitoring the effect of treatment are needed. Paramount is the possible effect of the treatment on the brain, since this organ is regarded as difficult to reach because of the blood-brain barrier. We therefore performed proton nuclear magnetic resonance spectroscopy (MRS) of the brain in two untreated patients, and a 16-year-old patient treated with BMT at the age of 10 to assess whether this non-invasive method could be applied in the monitoring of the accumulation of abnormal chemicals in the brain of patients. We found an abnormal peak that was not present in the treated patient. A similar pattern was also found in MRS of urine from patients, reflecting the concentration of oligosaccharides in serum and tissues. We therefore conclude that MRS can be a useful method to monitor the effect of treatment for Alpha-Mannosidosis.
MeSH term(s)	Adolescent ; Adult ; Blood-Brain Barrier/chemistry ; Blood-Brain Barrier/diagnostic imaging ; Brain/diagnostic imaging ; Humans ; Magnetic Resonance Spectroscopy/methods ; Male ; Monitoring, Physiologic/methods ; Oligosaccharides/analysis ; Polysaccharides/analysis ; Protons ; Radiography ; Urinalysis/methods ; Young Adult ; alpha-Mannosidosis/diagnostic imaging ; alpha-Mannosidosis/pathology ; alpha-Mannosidosis/urine
Chemical Substances	Oligosaccharides ; Polysaccharides ; Protons ; oligomannoside
Language	English
Publishing date	2011-05-04
Publishing country	United States
Document type	Case Reports ; Evaluation Study ; Journal Article
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1007/s10545-011-9331-7
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