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Article ; Online: Gene therapy for neuromuscular disorders: prospects and ethics.

Ryan, Monique M

2021 Volume 107, Issue 5, Page(s) 421–426

Abstract: Most childhood neuromuscular disorders are caused by mutations causing abnormal expression or regulation of single genes or genetic pathways. The potential for gene therapy, gene editing and genetic therapies to ameliorate the course of these conditions ... ...

Abstract	Most childhood neuromuscular disorders are caused by mutations causing abnormal expression or regulation of single genes or genetic pathways. The potential for gene therapy, gene editing and genetic therapies to ameliorate the course of these conditions is extraordinarily exciting, but there are significant challenges associated with their use, particularly with respect to safety, efficacy, cost and equity. Engagement with these novel technologies mandates careful assessment of the benefits and burdens of treatment for the patient, their family and their society. The examples provided by spinal muscular atrophy and Duchenne muscular dystrophy illustrate the potential value and challenges of gene and genetic therapies for paediatric neurological conditions. The cost and complexity of administration of these agents is a challenge for all countries. Jurisdictional variations in availability of newborn screening, genetic diagnostics, drug approval and reimbursement pathways, treatment and rehabilitation will affect equity of access, nationally and internationally. These challenges will best be addressed by collaboration by governments, pharma, clinicians and patient groups to establish frameworks for safe and cost-effective use of these exciting new therapies.
MeSH term(s)	Child ; Genetic Therapy/methods ; Humans ; Infant, Newborn ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/therapy ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/therapy ; Neonatal Screening ; Neuromuscular Diseases/diagnosis ; Neuromuscular Diseases/genetics ; Neuromuscular Diseases/therapy
Language	English
Publishing date	2021-08-30
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	524-1
ISSN	1468-2044 ; 0003-9888 ; 1359-2998
ISSN (online)	1468-2044
ISSN	0003-9888 ; 1359-2998
DOI	10.1136/archdischild-2020-320908
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Article ; Online: Comment on: Paediatric Facial Paralysis: An overview and Insights into Management.

Tan, Khian Aun / Ryan, Monique M

Journal of paediatrics and child health

2021 Volume 57, Issue 10, Page(s) 1725

MeSH term(s)	Child ; Facial Paralysis ; Humans
Language	English
Publishing date	2021-08-27
Publishing country	Australia
Document type	Letter
ZDB-ID	1024476-1
ISSN	1440-1754 ; 1034-4810
ISSN (online)	1440-1754
ISSN	1034-4810
DOI	10.1111/jpc.15721
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Article ; Online: Guillain-Barré syndrome with optic neuritis.

Andersen, Erik W / Ryan, Monique M / Leventer, Richard J

Journal of paediatrics and child health

2021 Volume 58, Issue 5, Page(s) 887–890

MeSH term(s)	Guillain-Barre Syndrome/diagnosis ; Humans ; Optic Neuritis/diagnosis ; Optic Neuritis/etiology
Language	English
Publishing date	2021-07-31
Publishing country	Australia
Document type	Case Reports
ZDB-ID	1024476-1
ISSN	1440-1754 ; 1034-4810
ISSN (online)	1440-1754
ISSN	1034-4810
DOI	10.1111/jpc.15656
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Article: The association between dietary factors and body weight and composition in boys with Duchenne muscular dystrophy

Billich, Natassja / Evans, Maureen / Truby, Helen / Ryan, Monique M. / Davidson, Zoe E.

Journal of human nutrition and dietetics. 2022 Oct., v. 35, no. 5

2022

Abstract: BACKGROUND: Duchenne muscular dystrophy (DMD) is a X‐linked neuromuscular disorder. Boys with DMD have high rates of obesity, although little is known about dietary factors that may contribute to weight gain in this population. The present study aimed to ...

Abstract	BACKGROUND: Duchenne muscular dystrophy (DMD) is a X‐linked neuromuscular disorder. Boys with DMD have high rates of obesity, although little is known about dietary factors that may contribute to weight gain in this population. The present study aimed to explore the relationship between dietary factors, body mass index (BMI) z‐score, body composition and motor function and to describe dietary intake in boys with DMD. METHODS: A cross‐sectional analysis of 3‐day food diaries from ambulant and steroid treated boys with DMD aged 5–13 years was conducted. Correlation analysis explored the relationship between dietary factors, BMI z‐score, fat mass percentage (FM%) and lean mass percentage (LM%). RESULTS: The median age was 8.5 years (interquartile range [IQR] = 7.2–10.5 years). Median energy kg–¹ day–¹ in those within a healthy weight range (n = 11) was 316 kJ kg–¹ day–¹ (IQR = 276–355 kJ kg–¹ day–¹) and greater than estimated requirements and, for those above a healthy weight (n = 26), energy intake was 185 kJ kg–¹ day–¹ (IQR = 143–214 kJ kg–¹ day–¹) and lower than estimated requirements. Energy kg–¹ day–¹ was negatively associated with BMI z‐score (r = −0. 650) and FM% (r = −0.817) but positively associated with LM% (r = 0.805; all analyses p = <0.01). Younger age was associated (r = −0.609 p = <0.01) with a higher energy kg–¹ day–¹. For all participants, vegetable, grains, meat/alternatives and dairy intakes were sub‐optimal. CONCLUSIONS: Younger boys with DMD within a healthy weight range are overconsuming energy dense nutrient poor foods. A focus on improving diet quality during early childhood may prove to be a useful strategy for reducing excess weight gain and supporting healthier eating habits in this vulnerable clinical population.
Keywords	body composition ; body mass index ; childhood ; cross-sectional studies ; dietetics ; energy intake ; food intake ; food quality ; ideal body weight ; meat ; muscular dystrophy ; neuromuscular disorders ; obesity ; vegetables ; weight gain
Language	English
Dates of publication	2022-10
Size	p. 804-815.
Publishing place	John Wiley & Sons, Ltd
Document type	Article
Note	JOURNAL ARTICLE
ZDB-ID	645183-4
ISSN	1365-277X ; 0952-3871 ; 1465-8178
ISSN (online)	1365-277X
ISSN	0952-3871 ; 1465-8178
DOI	10.1111/jhn.12987
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Article ; Online: Pediatric Guillain-Barré syndrome.

Ryan, Monique M

Current opinion in pediatrics

2013 Volume 25, Issue 6, Page(s) 689–693

Abstract: Purpose of review: Guillain-Barré syndrome (GBS) is the most common cause of acute flaccid paralysis in children. This review discusses the heterogeneous presentations of this disorder, the frequency of disease-related complications and the importance ... ...

Abstract	Purpose of review: Guillain-Barré syndrome (GBS) is the most common cause of acute flaccid paralysis in children. This review discusses the heterogeneous presentations of this disorder, the frequency of disease-related complications and the importance of assiduous clinical care in pediatric GBS. Recent findings: Recent reports have highlighted the variable clinical and neurophysiologic subtypes of pediatric GBS, and emphasized the value of imaging in diagnosis of this disorder. Summary: Diagnosis of pediatric GBS is often delayed because of its variable presentation. Early recognition and treatment decrease long-term morbidity and mortality. Recent research has cast light on the variable presentations and pathogenesis of the numerous subtypes of this condition, and is now focusing upon a better understanding of the natural history of GBS.
MeSH term(s)	Age Distribution ; Autoantibodies ; Child ; Child, Preschool ; Diagnosis, Differential ; Disease Progression ; Early Diagnosis ; Female ; Gene-Environment Interaction ; Genetic Predisposition to Disease ; Guillain-Barre Syndrome/complications ; Guillain-Barre Syndrome/diagnosis ; Guillain-Barre Syndrome/genetics ; Guillain-Barre Syndrome/therapy ; Humans ; Hypotension/genetics ; Immunoglobulins, Intravenous/therapeutic use ; Infant ; Male ; Prognosis ; Respiration, Artificial ; Respiratory Insufficiency/diagnosis ; Respiratory Insufficiency/etiology ; Respiratory Insufficiency/genetics ; Respiratory Insufficiency/therapy ; Time Factors
Chemical Substances	Autoantibodies ; Immunoglobulins, Intravenous
Language	English
Publishing date	2013-12
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1049374-8
ISSN	1531-698X ; 1040-8703
ISSN (online)	1531-698X
ISSN	1040-8703
DOI	10.1097/MOP.0b013e328365ad3f
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Article ; Online: Correlation between whole body muscle MRI and functional measures in paediatric patients with facioscapulohumeral muscular dystrophy.

Woodcock, Ian R / de Valle, Katy / Varma, Nisha / Kean, Michael / Ryan, Monique M

Neuromuscular disorders : NMD

2022 Volume 33, Issue 1, Page(s) 15–23

Abstract: Symptoms and severity of facioscapulohumeral muscular dystrophy (FSHD) can vary greatly, even within the same family. Clinical trial readiness requires accurate and reliable methods of assessing disease stage and progression. MRI has not previously been ... ...

Abstract	Symptoms and severity of facioscapulohumeral muscular dystrophy (FSHD) can vary greatly, even within the same family. Clinical trial readiness requires accurate and reliable methods of assessing disease stage and progression. MRI has not previously been assessed as a disease biomarker in paediatric FSHD. Eleven patients with FSHD1 underwent whole body muscle MRI. Pre-selected muscles were analysed by a paediatric radiologist using the semi-quantitative Mercuri/Kim method. Within each domain (oedema, fat replacement, atrophy) scores for each muscle were then summated to give each participant three cumulative domain scores. The same participants had functional measures scored: FSHD-CSS (Ricci), FSHD-CS (Lamperti), FSHD-COM, PUL2.0, MFM-32, 6MWT, myometry and manual muscle testing. Pearson coefficient was calculated to determine strength of correlation. The scores for atrophy and fat replacement showed strong correlation with functional outcome measures, particularly FSHD-CSS, FSHD-CS and FSHD-COM. In contrast, muscle oedema correlated poorly with all functional outcome measures, with no relationship seen to the 6MWT. This study of eleven children suggests that semi-quantitative visual Mercuri score utilising fat replacement or atrophy on whole body muscle MRI correlates strongly with disease-specific functional measures and may be a useful measure of disease severity in paediatric FSHD.
MeSH term(s)	Humans ; Child ; Muscular Dystrophy, Facioscapulohumeral/diagnostic imaging ; Muscle, Skeletal/pathology ; Magnetic Resonance Imaging/methods ; Atrophy ; Edema/pathology
Language	English
Publishing date	2022-11-25
Publishing country	England
Document type	Journal Article
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2022.11.006
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Article ; Online: The association between dietary factors and body weight and composition in boys with Duchenne muscular dystrophy.

Billich, Natassja / Evans, Maureen / Truby, Helen / Ryan, Monique M / Davidson, Zoe E

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association

2022 Volume 35, Issue 5, Page(s) 804–815

Abstract: Background: Duchenne muscular dystrophy (DMD) is a X-linked neuromuscular disorder. Boys with DMD have high rates of obesity, although little is known about dietary factors that may contribute to weight gain in this population. The present study aimed ... ...

Abstract	Background: Duchenne muscular dystrophy (DMD) is a X-linked neuromuscular disorder. Boys with DMD have high rates of obesity, although little is known about dietary factors that may contribute to weight gain in this population. The present study aimed to explore the relationship between dietary factors, body mass index (BMI) z-score, body composition and motor function and to describe dietary intake in boys with DMD. Methods: A cross-sectional analysis of 3-day food diaries from ambulant and steroid treated boys with DMD aged 5-13 years was conducted. Correlation analysis explored the relationship between dietary factors, BMI z-score, fat mass percentage (FM%) and lean mass percentage (LM%). Results: The median age was 8.5 years (interquartile range [IQR] = 7.2-10.5 years). Median energy kg Conclusions: Younger boys with DMD within a healthy weight range are overconsuming energy dense nutrient poor foods. A focus on improving diet quality during early childhood may prove to be a useful strategy for reducing excess weight gain and supporting healthier eating habits in this vulnerable clinical population.
MeSH term(s)	Body Composition ; Body Mass Index ; Body Weight ; Child ; Child, Preschool ; Cross-Sectional Studies ; Humans ; Male ; Muscular Dystrophy, Duchenne/complications ; Muscular Dystrophy, Duchenne/drug therapy ; Obesity/complications ; Weight Gain
Language	English
Publishing date	2022-02-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	645183-4
ISSN	1365-277X ; 0952-3871 ; 1465-8178
ISSN (online)	1365-277X
ISSN	0952-3871 ; 1465-8178
DOI	10.1111/jhn.12987
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Article ; Online: Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study.

Liaw, Joshua / Billich, Natassja / Carroll, Kate / Adams, Justine / Ryan, Monique M / Yiu, Eppie M / Zacharin, Margaret / Simm, Peter / Davidson, Zoe E

Muscle & nerve

2023 Volume 67, Issue 6, Page(s) 489–496

Abstract: Introduction/aims: Boys with Duchenne muscular dystrophy (DMD) are at increased risk of fracture. This study investigated the incidence of fractures, factors contributing to risk of first fracture with emphasis on body mass index (BMI), and the impact ... ...

Abstract	Introduction/aims: Boys with Duchenne muscular dystrophy (DMD) are at increased risk of fracture. This study investigated the incidence of fractures, factors contributing to risk of first fracture with emphasis on body mass index (BMI), and the impact of fractures on functional capacity in an Australian cohort of boys with DMD. Methods: A retrospective cohort study included boys with DMD who attended a pediatric neuromuscular clinic from 2011 to 2018. Information regarding fractures, anthropometry measurements, body composition and functional assessment was collected. Factors associated with first fracture risk were analyzed with Cox-proportional hazards. Longitudinal analysis of function post-fracture was also conducted. Results: This study included 155 boys with DMD. At least one fracture occurred in 71 (45%) boys; overall incidence of fractures was 399-per-10,000 persons-years. The first fracture was vertebral in 55%; 41% had non-vertebral fractures and 4% had both. Vertebral fractures occurred in significantly older (12.28 vs 9.28 y) boys with longer exposure to glucocorticoids (5.45 vs 2.50 y) compared to non-vertebral fractures. Boys with a history of fracture(s) had a steeper rate of functional decline (measured by Northstar Ambulatory Assessment score) than those with no recorded fractures. Discussion: A high fracture burden was observed in a large Australian cohort of boys with DMD. Further investigation is required to understand preventative strategies and modifiable risk factors to reduce the incidence of fractures in DMD. The impact on fractures on ambulatory capacity should be closely monitored.
MeSH term(s)	Muscular Dystrophy, Duchenne/complications ; Muscular Dystrophy, Duchenne/epidemiology ; Fractures, Bone/epidemiology ; Fractures, Bone/etiology ; Humans ; Male ; Child ; Retrospective Studies ; Risk ; Australia/epidemiology
Language	English
Publishing date	2023-04-03
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.27762
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Article: Peripheral nerve disease secondary to systemic conditions in children.

Wilmshurst, Jo M / Ouvrier, Robert A / Ryan, Monique M

Therapeutic advances in neurological disorders

2019 Volume 12, Page(s) 1756286419866367

Abstract: This review is an overview of systemic conditions that can be associated with peripheral nervous system dysfunction. Children may present with neuropathic symptoms for which, unless considered, a causative systemic condition may not be recognized. ... ...

Abstract	This review is an overview of systemic conditions that can be associated with peripheral nervous system dysfunction. Children may present with neuropathic symptoms for which, unless considered, a causative systemic condition may not be recognized. Similarly, some systemic conditions may be complicated by comorbid peripheral neuropathies, surveillance for which is indicated. The systemic conditions addressed in this review are critical illness polyneuropathy, chronic renal failure, endocrine disorders such as insulin-dependent diabetes mellitus and multiple endocrine neoplasia type 2b, vitamin deficiency states, malignancies and reticuloses, sickle cell disease, neurofibromatosis, connective tissue disorders, bowel dysmotility and enteropathy, and sarcoidosis. In some disorders presymptomatic screening should be undertaken, while in others there is no benefit from early detection of neuropathy. In children with idiopathic peripheral neuropathies, systemic disorders such as celiac disease should be actively excluded. While management is predominantly focused on symptomatic care through pain control and rehabilitation, some neuropathies improve with effective control of the underlying etiology and in a small proportion a more targeted approach is possible. In conclusion, peripheral neuropathies can be associated with a diverse range of medical conditions and unless actively considered may not be recognized and inadequately managed.
Language	English
Publishing date	2019-08-12
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2442245-9
ISSN	1756-2864 ; 1756-2856
ISSN (online)	1756-2864
ISSN	1756-2856
DOI	10.1177/1756286419866367
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Article ; Online: Pilot study of a virtual weight management program for Duchenne muscular dystrophy.

Billich, Natassja / Bray, Paula / Truby, Helen / Evans, Maureen / Carroll, Kate / de Valle, Katy / Adams, Justine / Kennedy, Rachel A / Villano, Daniella / Kornberg, Andrew J / Yiu, Eppie M / Ryan, Monique M / Davidson, Zoe E

Muscle & nerve

2024 Volume 69, Issue 4, Page(s) 459–466

Abstract: Introduction/aims: Young people with Duchenne muscular dystrophy (DMD) are at increased risk of obesity. Weight management is important to families; however, several barriers exist. This pilot study aimed to investigate the feasibility and acceptability ...

Abstract	Introduction/aims: Young people with Duchenne muscular dystrophy (DMD) are at increased risk of obesity. Weight management is important to families; however, several barriers exist. This pilot study aimed to investigate the feasibility and acceptability of a co-designed weight management program for DMD. Methods: The Supporting Nutrition and Optimizing Wellbeing Program (SNOW-P) was a single-arm diet and behavior weight management intervention delivered via weekly telehealth/phone visits over 6 weeks to young people with DMD and obesity (body mass index (BMI) ≥95th percentile) and their caregivers. Using an online survey, caregivers of boys with DMD were consulted on the structure and topics delivered in SNOW-P. Primary outcomes were feasibility and acceptability; secondary outcomes were weight, physical function, and quality of life at 6- and 12-weeks follow-up. Results: Of nineteen eligible participants, eight were enrolled (median age 11.4 years, range 4.9-15.8), and seven completed the program. Visit attendance was high (88%-100%); most participants reported high satisfaction and that participation was easy. Suggested changes included online and visual DMD-specific resources. At 6-weeks, median change in weight z-scores was -0.01 (IQR: -0.23, 0.17) indicating that on average, weight gain tracked as expected for age. Waist circumference measured by caregivers lacked accuracy and the completion rate of caregiver-reported secondary outcome measures (e.g., food diaries) was low. Discussion: A co-designed, telehealth/phone weight management program appeared to be feasible and acceptable in a small group of boys with DMD. An adapted, hybrid telehealth and face-to-face program is recommended for efficacy testing.
MeSH term(s)	Male ; Humans ; Adolescent ; Child, Preschool ; Child ; Muscular Dystrophy, Duchenne/therapy ; Muscular Dystrophy, Duchenne/complications ; Pilot Projects ; Weight Reduction Programs ; Quality of Life ; Obesity
Language	English
Publishing date	2024-02-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.28065
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