Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Cinzia Galimberti"'
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 7-16 (2018)
Abstract Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochemical, and genetic heterogeneity,
Externí odkaz:
https://doaj.org/article/12b4cf86bb3d4280823e28c0fc6aeea7
Autor:
Maria L. Bianchi, Miriam Rigoldi, Serena Tursi, Cinzia Galimberti, Roberta Pretese, Rossella Parini, Alessandra Brambilla, Raffaella Cancello, Serena Gasperini
Publikováno v:
Journal of Inherited Metabolic Disease. 42:1105-1117
No data are available on the specific energy needs of patients affected with Urea Cycle disorders (UCD) and especially argininosuccinic aciduria (ASA). In our experience, ASA patients tend to develop central adiposity and hypertriglyceridemia when tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a87c7a6ad4ad02a63812ecb3697655
https://doi.org/10.1002/jimd.12108
https://doi.org/10.1002/jimd.12108
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 7-16 (2018)
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 7-16 (2018)
Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochemical, and genetic heterogeneity, share ke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e36bc845b87424c7d45087f071d46bbd
http://europepmc.org/articles/PMC6238260
http://europepmc.org/articles/PMC6238260
Autor:
Cinzia Galimberti, Savina Mannarino, Roberta Pretese, Rossella Parini, Alessandra Brambilla, Serena Gasperini
Publikováno v:
JIMD Reports ISBN: 9783662445778
Glycogenosis type III (GSD III) is an autosomal recessive disorder due to amylo-1,6-glucosidase deficiency. This disease causes limit dextrin storage in affected tissues: liver, skeletal muscles, and heart in GSD IIIa and only liver in GSD IIIb. Card
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91496e55d7e5770dc722b807eb014f4b
https://europepmc.org/articles/PMC4241197/
https://europepmc.org/articles/PMC4241197/
Publikováno v:
The British journal of nutrition. 99
The present paper is a review of available data on effects of parental feeding attitudes and styles on child nutritional behaviour. Food preferences develop from genetically determined predispositions to like sweet and salty flavours and to dislike b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de30e4bb3444c1605b97e7292abedd94
https://pubmed.ncbi.nlm.nih.gov/18257948
https://pubmed.ncbi.nlm.nih.gov/18257948
Publikováno v:
In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e125-e125