Zobrazeno 1 - 10
of 208
pro vyhledávání: '"Visceromegaly"'
Publikováno v:
Radiology Case Reports, Vol 18, Iss 9, Pp 2966-2970 (2023)
Beckwith-Wiedemann syndrome (BWS) is a rare imprinting disorder and overgrowth syndrome with a prevalence of 1 in 10,000 live births. It is characterized by predilection for embryonal tumor growth, especially Wilms tumor (WT), and manifestations like
Externí odkaz:
https://doaj.org/article/e95fe6246dea4e039652df94191dcb17
Akademický článek
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Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 90-103 (2021)
JIMD Reports
JIMD Reports
Monosialotetrahexosylganglioside (GMI) gangliosidosis and Morquio type B (MorB) are two lysosomal storage disorders (LSDs) caused by the same enzyme deficiency, β‐galactosidase (βgal). GMI gangliosidosis, associated with GMI ganglioside accumulat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b38882778877a5299e25367f2cd2044
https://doaj.org/article/6c127b94a3e94d2eb2d0d33fd1bb903d
https://doaj.org/article/6c127b94a3e94d2eb2d0d33fd1bb903d
Publikováno v:
Forensic Science, Medicine and Pathology. 17:322-326
We report a case of sudden death in a 31-year-old male diagnosed at autopsy with clinical undiagnosed acromegaly. The purpose of this report is to underline the importance of health professionals reacting to phenotypic acromegaly, such as acral enlar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::797e2481492c077a2487b70b8cd095b1
https://doi.org/10.1007/s12024-021-00361-5
https://doi.org/10.1007/s12024-021-00361-5
Publikováno v:
Clinical Dysmorphology. 30:6-9
GM1 gangliosidosis is a lysosomal storage disorder, characterized by psychomotor deterioration, visceromegaly, facial coarseness, retinal cherry-red spots, and skeletal abnormalities. We report six unrelated patients with GM1 gangliosidosis with exte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d63b3b069dfeff6c93c31e240c1a3838
https://doi.org/10.1097/mcd.0000000000000353
https://doi.org/10.1097/mcd.0000000000000353
Autor:
Chengjun Sun, Ruoqian Cheng, Chenbin Dong, Feihong Luo, Wei Lu, Miaoying Zhang, Zhangqian Zheng, Renchao Liu, Bingbing Wu, Zhou Pei
Publikováno v:
Transl Pediatr
Background Beckwith-Wiedemann syndrome (BWS) is primarily caused by epigenetic errors. This study aimed to analyze the relationship between the epigenetic errors and phenotypes of BWS and to evaluate the efficacy of diagnosing BWS using patients' cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d2f52bb4b937b5c9baf6859276de72
https://doi.org/10.21037/tp-20-243
https://doi.org/10.21037/tp-20-243
Publikováno v:
Medical Mycology Case Reports
Medical Mycology Case Reports, Vol 26, Iss, Pp 61-63 (2019)
Medical Mycology Case Reports, Vol 26, Iss, Pp 61-63 (2019)
Histoplasmosis is a fungal disease usually occurring in endemic areas that can affect immuno-impaired patients in whom pulmonary involvement is the rule. We present the case of an 18 year-old immunocompetent, male patient, resident of the State of Fl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c6a6bc3aeba47c94c8294a08cc131e2
https://doi.org/10.1016/j.mmcr.2019.10.007
https://doi.org/10.1016/j.mmcr.2019.10.007
Publikováno v:
Neuropediatrics. 50:248-252
Background Fucosidosis is a rare lysosomal disorder caused by mutations in the FUCA1 gene. We describe here a novel homozygous mutation in FUCA1 in an Indian fucosidosis case. Furthermore, we summarize the clinical and genetic findings in the most re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::416b3e7b7fb06c9fcce10245d16ef06e
https://doi.org/10.1055/s-0039-1684052
https://doi.org/10.1055/s-0039-1684052
Autor:
David Zurakowski, Judy A. Estroff, Hester F. Shieh, Carol E. Barnewolt, Wen-Hann Tan, Terry L. Buchmiller
Publikováno v:
Prenatal Diagnosis. 39:792-795
Purpose Prenatal occurrence and timing of appearance of associated features in Beckwith-Wiedemann syndrome (BWS) are unknown. We reviewed our BWS patients with serial fetal imaging and correlated these with postnatal findings. Methods All BWS patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fce423bf7ab6e103fc517ddc2bb5c08
https://doi.org/10.1002/pd.5440
https://doi.org/10.1002/pd.5440
Autor:
Elizabeth Berry-Kravis
Publikováno v:
Seminars in pediatric neurology. 37
Niemann-Pick disease, type C (NPC) is a highly heterogeneous rare neurovisceral storage disease with early infantile, late infantile, juvenile and adult onset forms, and relentlessly progressive neurodegeneration leading to death. Vertical supranucle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afaa478b3ca55e306ed18edeb2590b5
https://pubmed.ncbi.nlm.nih.gov/33892845
https://pubmed.ncbi.nlm.nih.gov/33892845