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Akademický článek

Non‐Tidal Ocean Loading Signals of the North and Baltic Sea From Terrestrial Gravimetry, GNSS, and High‐Resolution Modeling

Autor: C. Voigt, R. Sulzbach, H. Dobslaw, A. Weise, L. Timmen, Z. Deng, M. Reich, N. Stolarczuk, H. Peters, M. Fietz, M. Thomas, F. Flechtner

Publikováno v: Geophysical Research Letters, Vol 51, Iss 13, Pp n/a-n/a (2024)

Abstract Non‐tidal ocean loading (NTOL) signals are known to be a significant source of geophysically induced noise in gravimetric and geodetic observations also far‐away from the coast and especially during extreme events such as storm surges. O

Externí odkaz: https://doaj.org/article/773601a9092f4c1a8121dff625cbbd6e

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Akademický článek

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Akademický článek

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Akademický článek

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Gender dimorphism in siblings with schizophrenia‐like psychosis due to Niemann‐Pick disease type C

Autor: Elizabeth Bowman, M. Fietz, Larry A Abel, Ramon Mocellin, Mark Walterfang, Dennis Velakoulis

Publikováno v: Journal of Inherited Metabolic Disease. 32:221-226

We describe the differential presentation of schizophrenia-like psychosis in two siblings with the 'variant' biochemical presentation of adult Niemann-Pick disease type C. The male sibling presented with psychosis at age 16 years and cognitive and mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b105b163e631cf04718c37e61038cba4
https://doi.org/10.1007/s10545-009-1173-1

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Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

Autor: C. Nicholls, M. Fietz, O. Asma, M. H. Lee, Meow-Keong Thong

Publikováno v: Journal of Inherited Metabolic Disease. 32:41-44

There are few reports of congenital disorders of glycosylation (CDGs) in the Asian population, although they have been reported worldwide. We identified a Malaysian infant female at 2 days of life with CDG type Ia. The diagnosis was suspected on the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f6cafd4205c4c4626a1afbcfff4770
https://doi.org/10.1007/s10545-009-1031-1

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A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

Autor: Samuel F. Berkovic, Paolo Tinuper, Francesca Bisulli, Maria Lucia Valentino, Michela Morbin, Karen Oliver, Barbara Mostacci, Laura Licchetta, M Fietz

Publikováno v: European journal of medical genetics. 58(10)

Juvenile neuronal-ceroid-lipofuscinosis (JNCL) is a lysosomal storage disease caused by mutations in CLN3. The most frequent mutation is a 1.02-kb deletion that, when homozygous, causes the classical clinical presentation. Patients harboring mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ce5e93354732a57b5bb5b430e8997bf
https://pubmed.ncbi.nlm.nih.gov/26360874

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Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency

Autor: B. Shanti, Neville J. Howard, Martin Silink, M. Fietz, Kaustuv Bhattacharya, Kevin Carpenter, John Christodoulou, Peter E. Clayton

Publikováno v: Journal of inherited metabolic disease. 32

We describe three patients with congenital disorder of glycosylation (CDG) type Ia, all of whom had persistent hyperinsulinaemic hypoglycaemia responding to diazoxide therapy as a common feature. The first patient, an infant girl, presented with recu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27385503d5085907b15d3c71315d79e1
https://pubmed.ncbi.nlm.nih.gov/19396570

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