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Article: Low Vitamin D Levels at Birth and Early Respiratory Outcome in Infants With Gestational Age Less Than 29 Weeks.

Papalia, Honoré / Samonini, Anais / Buffat, Christophe / Gras, E / des Robert, Clotilde / Landrier, Jean-Francois / Pauly, Vanessa / Boubred, Farid

Frontiers in pediatrics

2022 Volume 9, Page(s) 790839

Abstract: Background: Vitamin D (VitD) is involved in lung development but its influence on respiratory distress syndrome of extremely preterm (EPT) infants have been little investigated. In this study, we examined the influence of low vitamin D status at birth ... ...

Abstract	Background: Vitamin D (VitD) is involved in lung development but its influence on respiratory distress syndrome of extremely preterm (EPT) infants have been little investigated. In this study, we examined the influence of low vitamin D status at birth on early respiratory outcomes of this vulnerable infant population. Methods: Cord blood 25(OH)D levels ≤ 75 nmol/L were considered as Low vitamin D levels. Stepwise logistic regression and classification regression-tree analyses were used and the primary outcome was the combined outcome of death or mechanical ventilation need by the end of the first week (death or MV DoL7) as a marker od RDS severity. Results: The mean (SD) GA and birth weight were 26 (1.4) weeks and 801 (212) gr, respectively; 81/109 (74%) infants had low 25(OH)D levels. Infants with low VitD levels had 25% higher initial FiO Conclusion: Low vitamin D levels at birth are associated with early adverse respiratory outcomes in infants with GA less 29 weeks. Further largest studies are needed to confirm this association.
Language	English
Publishing date	2022-01-21
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2021.790839
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Article: Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea.

Liaugaudiene, Olga / Stoniene, Dalia / Kucinskiene, Ruta / Buffat, Christophe / Asmoniene, Virginija

Journal of pediatric genetics

2018 Volume 8, Issue 1, Page(s) 24–26

Abstract: Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of ... ...

Abstract	Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of
Language	English
Publishing date	2018-08-25
Publishing country	Germany
Document type	Case Reports
ISSN	2146-4596
ISSN	2146-4596
DOI	10.1055/s-0038-1669437
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Article ; Online: Pseudo-hyperkalaemia in ambulatory samples: the never-ending story?

Lano, Guillaume / Lefevre, Flora / Buffat, Christophe / Schlegel, Laurent / Dho, Emmanuel / Jantzen, Rodolphe / Resseguier, Noémie / Robert, Thomas

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

2021 Volume 37, Issue 5, Page(s) 991–993

MeSH term(s)	Ambulatory Care Facilities ; Humans ; Hyperkalemia/diagnosis ; Hyperkalemia/etiology
Language	English
Publishing date	2021-11-15
Publishing country	England
Document type	Letter
ZDB-ID	90594-x
ISSN	1460-2385 ; 0931-0509
ISSN (online)	1460-2385
ISSN	0931-0509
DOI	10.1093/ndt/gfab355
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Zs.A 2198: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article: Diagnostic d’une maladie inflammatoire rare et sévère de l’intestin chez un nourrisson présentant des ulcérations péri-orificielles.

Bardet, Alexandre / Riccardi, Florence / Torrents, Julia / Capasso, Françoise / Devooght, Marc-Antoine / Buffat, Christophe / Fabre, Alexandre / Piercecchi-Marti, Marie-Dominique / Delteil, Clémence

Annales de pathologie

2021 Volume 42, Issue 5, Page(s) 432–437

Abstract: We report the case of an infant aged 8 and a half months, who had an apparent life-threatening event and died despite optimal resuscitation management. The medical history was marked by mild symptoms, mainly feeding difficulties and progressively ... ...

Title translation	Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations.
Abstract	We report the case of an infant aged 8 and a half months, who had an apparent life-threatening event and died despite optimal resuscitation management. The medical history was marked by mild symptoms, mainly feeding difficulties and progressively settling skin lesions. Parents were related (first cousins) and the patient had two healthy older sisters. Autopsy showed growth delay, symmetrical erythematous and ulcerated periorificial lesions associated with punctiform erythematous lesions of the face and alopecia. Microscopic examination revealed deep bronchial inhalation with the onset of infectious pneumopathy, major inflammatory ulceration of the gastrointestinal tract, hepatic steatosis, brain stem and pancreas abnormalities. We conclude that the cause of death was a multi-visceral failure with inhalation pneumopathy, in a context of very early onset inflammatory bowel disease (VEO-IBD). Genetic consultation, into a rare disease reference center, allowed to orient the analysis, to identify a homozygous pathogenic variant in the IL10RA gene, confirming the diagnostic of an autosomal recessive very early onset inflammatory bowel disease (inflammatory bowel disease 28, early-onset, autosomal recessive, #613148).
MeSH term(s)	Age of Onset ; Humans ; Infant ; Inflammatory Bowel Diseases/complications ; Inflammatory Bowel Diseases/diagnosis
Language	French
Publishing date	2021-12-31
Publishing country	France
Document type	Case Reports ; Journal Article
ZDB-ID	225720-8
ISSN	0242-6498
ISSN	0242-6498
DOI	10.1016/j.annpat.2021.11.007
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Zs.A 1652: Show issues

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Article ; Online: Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.

Caralli, Morgane / Roman, Celine / Coste, Marie-Edith / Roquelaure, Bertrand / Buffat, Christophe / Bourgeois, Patrice / Badens, Catherine / Fabre, Alexandre

Journal of pediatric gastroenterology and nutrition

2021 Volume 72, Issue 6, Page(s) 826–832

Abstract: Objectives: Congenital diarrhea and enteropathies linked to epithelial structural abnormalities constitute 3 different rare diseases: the tufting enteropathies (TE; EPCAM and SPINT2 mutations), microvillous inclusion disease (MVID; MYO5B and STX3 ... ...

Abstract	Objectives: Congenital diarrhea and enteropathies linked to epithelial structural abnormalities constitute 3 different rare diseases: the tufting enteropathies (TE; EPCAM and SPINT2 mutations), microvillous inclusion disease (MVID; MYO5B and STX3 mutations), and tricho-hepato-enteric syndrome (THE; TTC37 and SKIV2L mutations). Moreover, enteroendocrine deficiencies (ED; PCSK1 and NEUROG3 mutations) share common clinical characteristics with TE, THE, and MVID in that the treatment requires, in most cases, long-term parenteral nutrition. Although numerous cases have been reported in the literature, aggregated data on morbidity and mortality are missing owing to the rarity of the diseases. Methods: We performed a systematic review of all published cases and retrieved 86 articles describing 323 patients (164 boys and 135 girls). Results: The mortality rate was 20.28%, with a median age at death of 13.5 months (range 0-228 months); the mortality risk was 30.8/1000 person-year; in half of the cases, death was caused by infections. Parenteral nutrition was required in 95.4% of patients and weaning off from parenteral nutrition was achieved in 29.35% at a median age of 23 months (range 3.3-276 months). The patients with ED linked to PCSK1 were nearly all weaned at a median age of 14 months, but most of the patients became overweight. MVID patients with MYO5B mutations were most often born preterm. ED linked to NEUROG3 mutation and THE patients usually presented with intrauterine growth retardation. Conclusions: This review presents data from 323 patients with congenital diarrhea linked to EPCAM TE, SPINT2 TE, TTC37 THE, SKIV2L THE, MYO5B MVID, STX3 MVID, NEUROG3 ED, and PCSK1 ED mutations.
Language	English
Publishing date	2021-05-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	603201-1
ISSN	1536-4801 ; 0277-2116
ISSN (online)	1536-4801
ISSN	0277-2116
DOI	10.1097/MPG.0000000000003049
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Zs.A 1728: Show issues

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Article ; Online: Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases.

Macraigne, Laure / Allaf, Bichr / Buffat, Christophe / Spaggiari, Emmanuel / Dimitrov, Georges / Fabre, Alexandre / Rosenblatt, Jonathan / Dreux, Sophie

Prenatal diagnosis

2021 Volume 41, Issue 4, Page(s) 434–439

Abstract: Objective: Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal ...

Abstract	Objective: Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal manifestations, mainly polyhydramnios, leading to premature delivery. Affected neonates present with watery stools, sometimes mistaken as urine, leading to a misdiagnosis of Bartter syndrome. The aim of this study was to study the value of a prenatal biochemical pattern in the case of suspected CDD. Methods: We retrospectively studied 12 amniotic fluids of CDD-affected fetuses prenatally suspected and confirmed after birth. Digestive enzymes, proteins, and electrolytes were assayed and showed abnormal biochemical patterns. Results: The 12 infants (eight CCD- and four CSD-affected) were born prematurely with a normal birth weight. Electrolytes and the Bartter index were normal for all cases. Amniotic fluid enzyme patterns were abnormal: anal leakage for nine, as expected, but vomiting of bile was observed for three infants, for whom an occlusive syndrome required surgery, and thereafter severe complications appeared with a poor prognosis. Conclusion: Amniotic fluid biochemical patterns differentiate CDD from Bartter syndrome. If a vomiting bile pattern is observed, postnatal management should take into account the hypothesis of a most severe complication.
MeSH term(s)	Diarrhea/congenital ; Diarrhea/diagnosis ; Diarrhea/epidemiology ; Diarrhea/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/epidemiology ; Metabolism, Inborn Errors/genetics ; Noninvasive Prenatal Testing/methods ; Noninvasive Prenatal Testing/statistics & numerical data ; Paris/epidemiology ; Pregnancy ; Retrospective Studies
Language	English
Publishing date	2021-01-03
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.5878
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Zs.A 1625: Show issues

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Article ; Online: Do early luteal serum progesterone levels predict the reproductive outcomes in IVF with oral dydrogesterone for luteal phase support?

Netter, Antoine / Mancini, Julien / Buffat, Christophe / Agostini, Aubert / Perrin, Jeanne / Courbiere, Blandine

PloS one

2019 Volume 14, Issue 7, Page(s) e0220450

Abstract: Objective: We sought to determine whether the early luteal serum progesterone (P4) level predicts the success of IVF treatment with oral dydrogesterone for luteal support.: Method: This retrospective monocentric cohort study included 242 women who ... ...

Abstract	Objective: We sought to determine whether the early luteal serum progesterone (P4) level predicts the success of IVF treatment with oral dydrogesterone for luteal support. Method: This retrospective monocentric cohort study included 242 women who underwent IVF treatment with fresh embryo transfer (ET) between July 2017 and June 2018. The population was unselected, and women were treated according to our unit's usual stimulation protocols. For the luteal phase support (LPS), all women were supplemented with a 10 mg three-times-daily dose of oral dydrogesterone beginning on the day of oocyte pick-up (OPU). Blood sampling was performed on the day of ET (Day 2-3 after OPU) to determine the early luteal serum progesterone level. Results: ROC curve analysis allowed us to determine two thresholds for the prediction of live birth using the early P4 level. Women who had early luteal P4 levels greater than 252 nmol/l had a significantly higher live birth rate (27.1%) than women with early luteal P4 between 115 and 252 nmol/l (17.2%) and women with early luteal P4 below 115 nmol/l (6.0%; p = 0.011). After a multiple regression analysis, an early luteal P4 level greater than 252 nmol/l was still associated with a higher chance of a live birth than a P4 between 115 and 252 nmol/l (OR = 0.40 [0.18-0.91]; p = 0.028) or a P4 below 115 nmol/l (OR = 0.10 [0.01-0.52]; p = 0.006). Conclusions: Our study suggests a positive association between early P4 levels and reproductive outcomes in IVF using oral dydrogesterone for luteal support. The inconsistencies between our results and those of other studies suggest that extrapolation is impractical. Further larger prospective cohort studies should be conducted to determine reliable thresholds that could be used to personalize luteal phase support.
MeSH term(s)	Administration, Oral ; Adult ; Dydrogesterone/administration & dosage ; Embryo Transfer ; Female ; Fertilization in Vitro/methods ; Humans ; Luteal Phase/blood ; Luteal Phase/metabolism ; Maternal Age ; Middle Aged ; Ovulation Induction ; Pregnancy ; Pregnancy Rate ; Progesterone/blood ; Prospective Studies ; ROC Curve ; Retrospective Studies
Chemical Substances	Progesterone (4G7DS2Q64Y) ; Dydrogesterone (90I02KLE8K)
Language	English
Publishing date	2019-07-30
Publishing country	United States
Document type	Journal Article
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0220450
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Article: Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea

Liaugaudiene, Olga / Stoniene, Dalia / Kucinskiene, Ruta / Buffat, Christophe / Asmoniene, Virginija

Journal of Pediatric Genetics

2018 Volume 08, Issue 01, Page(s) 24–26

Abstract	Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of SLC26A3, which revealed two Polish founder mutations in the DNA of the patient. The prevalence of CCD in Lithuanian neighbor Poland is approximately 1 in 200,000 live births. This is the first described case of CCD in Lithuania to our knowledge, leading to the suggestion that this disease may be underdiagnosed.
Keywords	congenital chloride diarrhea ; gene ; chloride malabsorption ; necrotizing enterocolitis
Language	English
Publishing date	2018-08-25
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ISSN	2146-460X ; 2146-4596
ISSN (online)	2146-460X
ISSN	2146-4596
DOI	10.1055/s-0038-1669437
Database	Thieme publisher's database

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Article: An AI-Powered Blood Test to Detect Cancer Using NanoDSF.

Tsvetkov, Philipp O / Eyraud, Rémi / Ayache, Stéphane / Bougaev, Anton A / Malesinski, Soazig / Benazha, Hamed / Gorokhova, Svetlana / Buffat, Christophe / Dehais, Caroline / Sanson, Marc / Bielle, Franck / Figarella Branger, Dominique / Chinot, Olivier / Tabouret, Emeline / Devred, François

Cancers

2021 Volume 13, Issue 6

Abstract: Glioblastoma is the most frequent and aggressive primary brain tumor. Its diagnosis is based on resection or biopsy that could be especially difficult and dangerous in the case of deep location or patient comorbidities. Monitoring disease evolution and ... ...

Abstract	Glioblastoma is the most frequent and aggressive primary brain tumor. Its diagnosis is based on resection or biopsy that could be especially difficult and dangerous in the case of deep location or patient comorbidities. Monitoring disease evolution and progression also requires repeated biopsies that are often not feasible. Therefore, there is an urgent need to develop biomarkers to diagnose and follow glioblastoma evolution in a minimally invasive way. In the present study, we described a novel cancer detection method based on plasma denaturation profiles obtained by a non-conventional use of differential scanning fluorimetry. Using blood samples from 84 glioma patients and 63 healthy controls, we showed that their denaturation profiles can be automatically distinguished with the help of machine learning algorithms with 92% accuracy. Proposed high throughput workflow can be applied to any type of cancer and could become a powerful pan-cancer diagnostic and monitoring tool requiring only a simple blood test.
Language	English
Publishing date	2021-03-15
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers13061294
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Article ; Online: Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.

Dimitrov, Georges / Bamberger, Sarah / Navard, Chloe / Dreux, Sophie / Badens, Catherine / Bourgeois, Patrice / Buffat, Christophe / Hugot, Jean-Pierre / Fabre, Alexandre

European journal of medical genetics

2019 Volume 62, Issue 10, Page(s) 103712

Abstract: Congenital Sodium Diarrhea (CSD) due to SLC9A3 mutation is a rare cause of neonatal diarrhea explained by dysfunction of the Na+/H+ antiporter 3 in intestine. To date only 10 patients have been described. We report a male patient with typical antenatal ... ...

Abstract	Congenital Sodium Diarrhea (CSD) due to SLC9A3 mutation is a rare cause of neonatal diarrhea explained by dysfunction of the Na+/H+ antiporter 3 in intestine. To date only 10 patients have been described. We report a male patient with typical antenatal symptoms (polyhydramnios and intestinal dilation) and neonatal diarrhea with fecal sodium and bicarbonates loss. Next generation sequencing revealed a missense homozygous mutation in exon 6 of the SLC9A3 gene (NM_004174.3:c.1039G > A, NP_004165.2:p.Glu347Lys). Oral electrolytes supplements (Sodium and Bicarbonates) allowed a normal growth to the child currently aged twenty months. CSD symptomatology usually begins during third trimester of pregnancy. Antenatal signs are polyhydramnios and diffuse intestinal dilation. Main differential diagnoses are intestinal obstruction and Congenital Chloride Diarrhea. Diarrhea begins from the first days of life and its severity is variable. Based on the report and on the literature we suggest that non syndromic CSD can be detected during third trimester of pregnancy. With adequate electrolytes supplementation good evolution is possible.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Amino Acid Sequence ; Biopsy ; DNA Mutational Analysis ; Diagnostic Imaging ; Diarrhea/congenital ; Diarrhea/diagnosis ; Diarrhea/genetics ; Genetic Association Studies ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/genetics ; Mutation ; Sodium-Hydrogen Exchanger 3/genetics
Chemical Substances	Genetic Markers ; SLC9A3 protein, human ; Sodium-Hydrogen Exchanger 3
Language	English
Publishing date	2019-07-02
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2019.103712
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