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Article ; Online: Validation of a Low-protein Semi-Quantitative Food Frequency Questionnaire.

Evans, Sharon / Ashmore, Catherine / Daly, Anne / Jackson, Richard / Pinto, Alex / MacDonald, Anita

2022 Volume 14, Issue 8

Abstract: Analysis of dietary patterns and their role in long-term health is limited in phenylketonuria (PKU). Food frequency questionnaires (FFQ) are commonly used to assess habitual intake. A semi-quantitative 89-item FFQ with a portion size photographic booklet ...

Abstract	Analysis of dietary patterns and their role in long-term health is limited in phenylketonuria (PKU). Food frequency questionnaires (FFQ) are commonly used to assess habitual intake. A semi-quantitative 89-item FFQ with a portion size photographic booklet was developed for children with PKU as a tool for collecting data on habitual intake of foods, food groups, energy and macronutrient intake. Twenty children with PKU aged 11−16 years, 30 parents of children with PKU aged 4−10 years, and 50 age/gender-matched control children were recruited. To test reproducibility, FFQs were completed twice with a mean interval of 5 weeks (range: 4−10). In order to test validity, FFQs were compared with five 24-h dietary recalls with a mean interval of 10 days (range: 6−18). Energy and macronutrient intake and quantity/week of individual food items were calculated and compared. There was good reproducibility for the FFQ with macronutrient correlations r > 0.6 and good validity data with most correlations r > 0.5. Bland−Altman plots for reproducibility and validity showed mean levels close to 0 and usually within 2 standard deviations. FFQ comparisons of PKU and control groups identified expected differences in % energy from macronutrients (PKU vs. control: carbohydrate 59% vs. 51%, fat 26% vs. 33%, protein 15% vs. 16%). This FFQ for PKU produced comparable data to repeated dietary recalls and is a valid tool for collecting data on habitual food and nutrient intake. It will be useful in assessing changes in dietary phenylalanine tolerance of new pharmacological treatments for PKU.
MeSH term(s)	Child ; Diet ; Diet Records ; Diet Surveys ; Diet, Protein-Restricted ; Energy Intake ; Humans ; Reproducibility of Results ; Surveys and Questionnaires
Language	English
Publishing date	2022-04-12
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu14081595
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria: A 6 Month Follow-Up Report.

Gama, Maria Inês / Daly, Anne / Ashmore, Catherine / Evans, Sharon / Moreira-Rosário, André / Rocha, Júlio César / MacDonald, Anita

Nutrients

2023 Volume 15, Issue 16

Abstract: Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in sapropterin-responsive populations have not been widely reported. We aimed to assess changes in food quality, mental health and burden of care in a paediatric PKU ... ...

Abstract	Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in sapropterin-responsive populations have not been widely reported. We aimed to assess changes in food quality, mental health and burden of care in a paediatric PKU sapropterin-responsive cohort. Methods: In an observational, longitudinal study, patient questionnaires on food frequency, neophobia, anxiety and depression, impact on family and burden of care were applied at baseline, 3 and 6-months post successful sapropterin-responsiveness testing (defined as a 30% reduction in blood phenylalanine levels). Results: 17 children (10.8 ± 4.2 years) completed 6-months follow-up. Patients body mass index (BMI) z-scores remained unchanged after sapropterin initiation. Blood phenylalanine was stable. Natural protein increased ( Conclusion: There were significant positive changes in food patterns, behaviors and burden of care in children with PKU and their families after 6-months on sapropterin treatment.
MeSH term(s)	Animals ; Cattle ; Female ; Bread ; Diet ; Follow-Up Studies ; Longitudinal Studies ; Phenylketonurias/drug therapy
Chemical Substances	sapropterin (EGX657432I)
Language	English
Publishing date	2023-08-17
Publishing country	Switzerland
Document type	Journal Article ; Observational Study
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15163603
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Article ; Online: Phenylalanine free infant formula in the dietary management of phenylketonuria.

Yilmaz, Ozlem / Cochrane, Barbara / Wildgoose, Jo / Pinto, Alex / Evans, Sharon / Daly, Anne / Ashmore, Catherine / MacDonald, Anita

Orphanet journal of rare diseases

2023 Volume 18, Issue 1, Page(s) 16

Abstract: Background: Phenylalanine-free infant formula is an essential source of safe protein in a phenylalanine restricted diet, but its efficacy is rarely studied. We report a multicentre, open, longitudinal, prospective intervention study on a phenylalanine- ... ...

Abstract	Background: Phenylalanine-free infant formula is an essential source of safe protein in a phenylalanine restricted diet, but its efficacy is rarely studied. We report a multicentre, open, longitudinal, prospective intervention study on a phenylalanine-free infant formula (PKU Start: Vitaflo International Ltd.). Results: This was a 2-part study: part I (28 days short term evaluation) and part II (12 months extension). Data was collected on infant blood phenylalanine concentrations, dietary intake, growth, and gastrointestinal tolerance. Ten infants (n = 8 males, 80%), with a median age of 14 weeks (range 4-36 weeks) were recruited from 3 treatment centres in the UK. Nine of ten infants completed the 28-day follow-up (one caregiver preferred the usual phenylalanine-free formula and discontinued the study formula after day 14) and 7/9 participated in study part II. The phenylalanine-free infant formula contributed a median of 57% (IQR 50-62%) energy and 53% (IQR 33-66%) of total protein intake from baseline to the end of the part II extension study. During the 12-month follow-up, infants maintained normal growth and satisfactory blood phenylalanine control. Any early gastrointestinal symptoms (constipation, colic, vomiting and poor feeding) improved with time. Conclusion: The study formula was well tolerated, helped maintain good metabolic control, and normal growth in infants with PKU. The long-term efficacy of phenylalanine-free infant formula should continue to be observed and monitored.
MeSH term(s)	Infant ; Male ; Humans ; Infant Formula ; Prospective Studies ; Phenylalanine ; Proteins ; Phenylketonurias
Chemical Substances	Phenylalanine (47E5O17Y3R) ; Proteins
Language	English
Publishing date	2023-01-25
Publishing country	England
Document type	Journal Article ; 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/s13023-023-02621-9
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Article ; Online: Parent's Perception of the Types of Support Given to Families with an Infant with Phenylketonuria.

Cassidy, Sophie / Evans, Sharon / Pinto, Alex / Daly, Anne / Ashmore, Catherine / Ford, Suzanne / Buckley, Sharon / MacDonald, Anita

Nutrients

2023 Volume 15, Issue 10

Abstract: Background: A diagnosis of phenylketonuria (PKU) in an infant is a devastating and overwhelming event for their parents. Providing appropriate information and support is paramount, especially at the beginning of a child's life. Investigating if parents ... ...

Abstract	Background: A diagnosis of phenylketonuria (PKU) in an infant is a devastating and overwhelming event for their parents. Providing appropriate information and support is paramount, especially at the beginning of a child's life. Investigating if parents are receiving the right support is important for continued care. Methodology: An online survey was distributed to explore parents' perceptions of current support and information provided by their healthcare provider and to rate sources of other support ( Results: Dietitians received the highest (85%) rate of "very helpful" support. Overall, parents found Facebook to be helpful for support but had mixed reactions when asked if healthcare professionals (HCPs) should provide advice as part of the groups. When rating the most effective learning methods, the top three were 1:1 teaching sessions ( Conclusion: Most parents are happy with the support and information they receive from their dietitian but required more support from other HCPs. Facebook groups provide parents with the social support that HCPs and their family may be unable to offer, suggesting a place for social media in future PKU care.
MeSH term(s)	Child ; Humans ; Infant ; Parents ; Health Personnel ; Nutritionists ; Phenylketonurias ; Perception
Language	English
Publishing date	2023-05-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15102328
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Article ; Online: Natural Protein Intake in Children with Phenylketonuria: Prescription vs. Actual Intakes.

Pinto, Alex / Daly, Anne / Rocha, Júlio César / Ashmore, Catherine / Evans, Sharon / Ilgaz, Fatma / Hickson, Mary / MacDonald, Anita

Nutrients

2023 Volume 15, Issue 23

Abstract: In phenylketonuria (PKU), an important component of the UK dietary management system is a 50 mg phenylalanine (Phe)/1 g protein exchange system used to allocate the Phe/natural protein intakes according to individual patient tolerance. Any foods ... ...

Abstract	In phenylketonuria (PKU), an important component of the UK dietary management system is a 50 mg phenylalanine (Phe)/1 g protein exchange system used to allocate the Phe/natural protein intakes according to individual patient tolerance. Any foods containing protein ≤ 0.5 g/100 g or fruits/vegetables containing Phe ≤ 75 mg/100 g are allowed without measurement or limit. In children with PKU, we aimed to assess the difference between the prescribed natural protein intake and their actual consumed intake, and to calculate the natural protein/Phe intake from foods given without measurement or restriction. Over a 6-month duration, three one-day diet diaries were collected every month by caregivers of children with PKU at the beginning of a follow-up study. Dietary intakes of Phe, as well as natural and total protein intakes, were calculated using Nutritics
MeSH term(s)	Child ; Female ; Humans ; Male ; Follow-Up Studies ; Phenylketonurias ; Diet ; Phenylalanine ; Prescriptions
Chemical Substances	Phenylalanine (47E5O17Y3R)
Language	English
Publishing date	2023-11-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15234903
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Article ; Online: Preliminary Data on Free Use of Fruits and Vegetables Containing Phenylalanine 76-100 mg/100 g of Food in 16 Children with Phenylketonuria: 6 Months Follow-Up.

Pinto, Alex / Daly, Anne / Rocha, Júlio César / Ashmore, Catherine / Evans, Sharon / Jackson, Richard / Hickson, Mary / MacDonald, Anita

Nutrients

2023 Volume 15, Issue 13

Abstract: In phenylketonuria (PKU), a previous intervention study assessing the patients ability to tolerate fruits and vegetables containing phenylalanine 76-100 mg/100 g without limit or measurement, found that an extra 50 mg/day phenylalanine, but not 100 mg/ ... ...

Abstract	In phenylketonuria (PKU), a previous intervention study assessing the patients ability to tolerate fruits and vegetables containing phenylalanine 76-100 mg/100 g without limit or measurement, found that an extra 50 mg/day phenylalanine, but not 100 mg/day, was tolerated from these fruits and vegetables. In a further 6-month extension study, we examined the effect of the 'free' use of this group of fruits and vegetables on blood phenylalanine control. For 6 months, the patients ate fruits and vegetables containing phenylalanine 76-100 mg/100 g without limit or measurement. Three-day diet diaries and the patients' weights were collected monthly. Blood phenylalanine spots were collected weekly aiming for blood phenylalanine levels <360 μmol/L. Retrospective blood phenylalanine was collected 6 months pre-trial. All 16 patients (69% females) from the intervention study took part in the extension study. Most of the patients (
MeSH term(s)	Female ; Humans ; Child ; Adolescent ; Male ; Vegetables ; Fruit ; Phenylalanine ; Retrospective Studies ; Follow-Up Studies ; Preliminary Data ; Phenylketonurias
Chemical Substances	Phenylalanine (47E5O17Y3R)
Language	English
Publishing date	2023-07-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15133046
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Article: Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I

Daly, Anne / Evans, Sharon / Pinto, Alex / Ashmore, Catherine / MacDonald, Anita

Nutrients. 2021 Sept. 16, v. 13, no. 9

2021

Abstract: Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supplemented with a Tyr/Phe-free protein substitute (PS). Casein glycomacropeptide (CGMP), a bioactive peptide, is an alternative protein ... ...

Abstract	Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supplemented with a Tyr/Phe-free protein substitute (PS). Casein glycomacropeptide (CGMP), a bioactive peptide, is an alternative protein source to traditional amino acids (L-AA). CGMP contains residual Tyr and Phe and requires supplementation with tryptophan, histidine, methionine, leucine, cysteine and arginine. Aims: a 2-part study assessed: (1) the tolerance and acceptability of a low Tyr/Phe CGMP-based PS over 28 days, and (2) its long-term impact on metabolic control and growth over 12 months. Methods: 11 children with HTI were recruited and given a low Tyr/Phe CGMP to supply all or part of their PS intake. At enrolment, weeks 1 and 4, caregivers completed a questionnaire on gastrointestinal symptoms, acceptability and ease of PS use. In study part 1, blood Tyr and Phe were assessed weekly; in part 2, weekly to fortnightly. In parts 1 and 2, weight and height were assessed at the study start and end. Results: Nine of eleven children (82%), median age 15 years (range 8.6–17.7), took low Tyr/Phe CGMP PS over 28 days; it was continued for 12 months in n = 5 children. It was well accepted by 67% (n = 6/9), tolerated by 100% (n = 9/9) and improved gastrointestinal symptoms in 2 children. The median daily dose of protein equivalent from protein substitute was 60 g/day (range 45–60 g) with a median of 20 g/day (range 15 to 30 g) from natural protein. In part 2 (n = 5), a trend for improved blood Tyr was observed: 12 months pre-study, median Tyr was 490 μmol/L (range 200–600) and Phe 50 μmol/L (range 30–100); in the 12 months taking low Tyr/Phe CGMP PS, median Tyr was 430 μmol/L (range 270–940) and Phe 40 μmol/L (range 20–70). Normal height, weight and BMI z scores were maintained over 12 months. Conclusions: In HTI children, CGMP was well tolerated, with no deterioration in metabolic control or growth when studied over 12 months. The efficacy of CGMP in HTI needs further investigation to evaluate the longer-term impact on blood Phe concentrations and its potential influence on gut microflora
Keywords	arginine ; blood ; caregivers ; casein ; cysteine ; gastrointestinal system ; histidine ; intestinal microorganisms ; leucine ; long term effects ; methionine ; peptides ; phenylalanine ; protein sources ; questionnaires ; tryptophan ; tyrosine
Language	English
Dates of publication	2021-0916
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2518386-2
ISSN	2072-6643
ISSN	2072-6643
DOI	10.3390/nu13093224
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Protein Substitutes in PKU; Their Historical Evolution.

Daly, Anne / Evans, Sharon / Pinto, Alex / Ashmore, Catherine / MacDonald, Anita

Nutrients

2021 Volume 13, Issue 2

Abstract: Protein substitutes developed for phenylketonuria (PKU) are a synthetic source of protein commonly based on L-amino acids. They are essential in the treatment of phenylketonuria (PKU) and other amino acid disorders, allowing the antagonistic amino acid ... ...

Abstract	Protein substitutes developed for phenylketonuria (PKU) are a synthetic source of protein commonly based on L-amino acids. They are essential in the treatment of phenylketonuria (PKU) and other amino acid disorders, allowing the antagonistic amino acid to be removed but with the safe provision of all other amino acids necessary for maintaining normal physiological function. They were first formulated by a chemist and used experimentally on a 2-year-old girl with PKU and their nutritional formulations and design have improved over time. Since 2008, a bioactive macropeptide has been used as a base for protein substitutes in PKU, with potential benefits of improved bone and gut health, nitrogen retention, and blood phenylalanine control. In 2018, animal studies showed that physiomimic technology coating the amino acids with a polymer allows a slow release of amino acids with an improved physiological profile. History has shown that in PKU, the protein substitute's efficacy is determined by its nutritional profile, amino acid composition, dose, timing, distribution, and an adequate energy intake. Protein substitutes are often given little importance, yet their pharmacological actions and clinical benefit are pivotal when managing PKU.
MeSH term(s)	Amino Acids/administration & dosage ; Amino Acids/analysis ; Animals ; Caseins/administration & dosage ; Caseins/chemistry ; Child, Preschool ; Dietary Proteins/administration & dosage ; Dietary Proteins/chemistry ; Female ; History, 20th Century ; History, 21st Century ; Humans ; Nutritional Requirements ; Peptide Fragments/administration & dosage ; Peptide Fragments/chemistry ; Phenylalanine/blood ; Phenylalanine/chemistry ; Phenylketonurias/blood ; Phenylketonurias/diet therapy ; Phenylketonurias/history ; Phenylpyruvic Acids/urine ; Protein Hydrolysates/administration & dosage ; United Kingdom
Chemical Substances	Amino Acids ; Caseins ; Dietary Proteins ; Peptide Fragments ; Phenylpyruvic Acids ; Protein Hydrolysates ; caseinomacropeptide ; Phenylalanine (47E5O17Y3R) ; phenylpyruvic acid (X7CO62M413)
Language	English
Publishing date	2021-02-02
Publishing country	Switzerland
Document type	Historical Article ; Journal Article ; Review
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu13020484
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Article ; Online: Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I.

Daly, Anne / Evans, Sharon / Pinto, Alex / Ashmore, Catherine / MacDonald, Anita

Nutrients

2021 Volume 13, Issue 9

Abstract	Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supplemented with a Tyr/Phe-free protein substitute (PS). Casein glycomacropeptide (CGMP), a bioactive peptide, is an alternative protein source to traditional amino acids (L-AA). CGMP contains residual Tyr and Phe and requires supplementation with tryptophan, histidine, methionine, leucine, cysteine and arginine. Aims: a 2-part study assessed: (1) the tolerance and acceptability of a low Tyr/Phe CGMP-based PS over 28 days, and (2) its long-term impact on metabolic control and growth over 12 months. Methods: 11 children with HTI were recruited and given a low Tyr/Phe CGMP to supply all or part of their PS intake. At enrolment, weeks 1 and 4, caregivers completed a questionnaire on gastrointestinal symptoms, acceptability and ease of PS use. In study part 1, blood Tyr and Phe were assessed weekly; in part 2, weekly to fortnightly. In parts 1 and 2, weight and height were assessed at the study start and end. Results: Nine of eleven children (82%), median age 15 years (range 8.6-17.7), took low Tyr/Phe CGMP PS over 28 days; it was continued for 12 months in Conclusions: In HTI children, CGMP was well tolerated, with no deterioration in metabolic control or growth when studied over 12 months. The efficacy of CGMP in HTI needs further investigation to evaluate the longer-term impact on blood Phe concentrations and its potential influence on gut microflora.
MeSH term(s)	Adolescent ; Amino Acids/administration & dosage ; Amino Acids/blood ; Caseins/administration & dosage ; Child ; Child, Preschool ; Cyclohexanones/administration & dosage ; Diet/methods ; Dietary Proteins/administration & dosage ; Dietary Supplements ; Female ; Humans ; Male ; Nitrobenzoates/administration & dosage ; Peptide Fragments/administration & dosage ; Phenylalanine/administration & dosage ; Phenylalanine/blood ; Prospective Studies ; Tyrosine/administration & dosage ; Tyrosine/blood ; Tyrosinemias/diet therapy
Chemical Substances	Amino Acids ; Caseins ; Cyclohexanones ; Dietary Proteins ; Nitrobenzoates ; Peptide Fragments ; caseinomacropeptide ; Tyrosine (42HK56048U) ; Phenylalanine (47E5O17Y3R) ; nitisinone (K5BN214699)
Language	English
Publishing date	2021-09-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu13093224
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Article: An Observational Study Evaluating the Introduction of a Prolonged-Release Protein Substitute to the Dietary Management of Children with Phenylketonuria

MacDonald, Anita / Ashmore, Catherine / Daly, Anne / Pinto, Alex / Evans, Sharon

Nutrients. 2020 Sept. 03, v. 12, no. 9

2020

Abstract: Dietary restriction of phenylalanine combined with a protein substitute prevents intellectual disability in patients with phenylketonuria (PKU). However, current protein substitutes are associated with low adherence owing to unpalatability and burdensome ...

Abstract	Dietary restriction of phenylalanine combined with a protein substitute prevents intellectual disability in patients with phenylketonuria (PKU). However, current protein substitutes are associated with low adherence owing to unpalatability and burdensome administration regimens. This prospective, observational acceptability study in children with PKU assessed the use of a prolonged-release protein substitute designed with an ethyl cellulose and arginate coating masking the bitter taste, smell and reducing the osmolarity of free amino acids. The study product was mixed with the subject’s food or drink and replaced ≥1 dose per day of the subject’s usual protein substitute for 7 days. Seven of 13 subjects were able to take their prescribed dose over the 7 day period. Most subjects mixed the test protein substitute with food or fruit juice. Reduced blood phenylalanine levels (n = 5) and improved phenylalanine/tyrosine ratio (n = 4) were recorded from baseline to Day 7, respectively. Four subjects reported fewer gastrointestinal symptoms compared to baseline. There were no cases of diarrhoea, constipation, bloating, nausea or vomiting. No adverse reactions were reported. In conclusion, the novel prolonged-release protein substitute was taken in a different way to a typical protein substitute and enabled satisfactory blood phenylalanine control. The study product was well tolerated; subjects experienced fewer gastrointestinal symptoms than with their previous treatment. Although the results of this pilot study provide reassuring data, longer-term studies evaluating adherence and blood phenylalanine control are necessary.
Keywords	administrative management ; bitterness ; blood ; constipation ; diarrhea ; dietary restriction ; dosage ; ethyl cellulose ; fruit juices ; gastrointestinal system ; nausea ; observational studies ; osmolarity ; phenylalanine ; phenylketonuria ; smell ; tyrosine
Language	English
Dates of publication	2020-0903
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
Note	NAL-light
ZDB-ID	2518386-2
ISSN	2072-6643
ISSN	2072-6643
DOI	10.3390/nu12092686
Database	NAL-Catalogue (AGRICOLA)

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