Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Inborn genetic diseases"'
Autor:
Jangsup Moon
Publikováno v:
Encephalitis, Vol 2, Iss 2, Pp 29-35 (2022)
Differential diagnosis of meningitis and encephalitis is often very challenging because it cannot be determined based on symptoms, and the diseases have various causes. This article explains rare genetic causes of meningitis and encephalitis. Autoinf
Externí odkaz:
https://doaj.org/article/cdaaf4e8e08b4aa4bcfb033fcb30ece8
Akademický článek
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Autor:
Tatiana Marusic, Mojca Zerjav Tansek, Andreja Sirca Campa, Ajda Mezek, Pavel Berden, Tadej Battelino, Urh Groselj
Publikováno v:
Data in Brief, Vol 32, Iss , Pp 106205- (2020)
Datasets highlighting effects of ketogenic diet (KD) in a glycogen storage disease type IIIa patient is presented with the longest patient follow up report to date. Now a 15-year old girl with GSD type IIIa, diagnosed at 1 year of age, had initially
Externí odkaz:
https://doaj.org/article/15d4c14a8385492199ea1f2d4281adeb
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
Open Medicine, Vol 8, Iss 1, Pp 80-83 (2013)
Externí odkaz:
https://doaj.org/article/ba0fcfa72bf04758b15068a4b8fae71e
Autor:
Mariana Vallim Salles, Mariana Matioli da Palma, Juliana Maria Ferraz Sallum, Guilherme Eiichi da Silva Takitani, Fabiana Louise Motta, Luiz H. Lima
Publikováno v:
Ophthalmic Genetics. 41:189-193
Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three typ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8045e46c2d265a825f742e0d700d0753
https://doi.org/10.1080/13816810.2020.1747084
https://doi.org/10.1080/13816810.2020.1747084
Publikováno v:
Journal of Child Neurology
Mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage diseases with multisystem manifestations, including carpal tunnel syndrome (CTS). This study comprised a systematic review of literature and hospital guidelines addressing the method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e290a49723e5b06039a1e03e8c9e39ec
http://europepmc.org/articles/PMC7153223
http://europepmc.org/articles/PMC7153223
Autor:
Harold Siden
Publikováno v:
Children, Vol 5, Iss 2, p 28 (2018)
A substantial number of children cared for by pediatric palliative care physicians have progressive non-malignant conditions. Some elements of their care overlap with care for children with cancer while other elements, especially prognosis and trajec
Externí odkaz:
https://doaj.org/article/6162afe8f4f049268215ff95a6eba81c
Autor:
Mojca Zerjav Tansek, Urh Groselj, Tadej Battelino, Andreja Sirca Campa, Tatiana Marusic, Pavel Berden, Ajda Mezek
Publikováno v:
Data in Brief, Vol 32, Iss, Pp 106205-(2020)
Data in Brief
Data in brief, vol. 32, 106205, 2020.
Data in Brief
Data in brief, vol. 32, 106205, 2020.
Datasets highlighting effects of ketogenic diet (KD) in a glycogen storage disease type IIIa patient is presented with the longest patient follow up report to date. Now a 15-year old girl with GSD type IIIa, diagnosed at 1 year of age, had initially
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d887acf7ea632d1a9974d3014b6e9bc5
http://www.sciencedirect.com/science/article/pii/S2352340920310994
http://www.sciencedirect.com/science/article/pii/S2352340920310994
Autor:
Vincenzo Leuzzi, Beat Thöny, Todd Berner, Georg F. Hoffmann, Mariarita Bertoldi, Carla Carducci, Corinne Gemperle, Keith Hyland, Nenad Blau, Carla Borri Voltattorni, Riccardo Montioli, Nastassja Himmelreich
Publikováno v:
Web of Science
Aromatic- l -amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder characterized by sharply reduced synthesis of dopamine as well as other neurotransmitters. Symptoms, including hypotonia and movement diso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e44a16c4a1ffd6af2576f0c34d36b56
https://doi.org/10.1016/j.ymgme.2019.03.009
https://doi.org/10.1016/j.ymgme.2019.03.009