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1 . Academic Journal
A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy
저자
by
Licchetta, L.
;
Bisulli, F.
;
Fietz, M.
;
Valentino, M.L.
;
Morbin, M.
, et al.
소스
In
European Journal of Medical Genetics
October 2015 58(10):540-544
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7 . Academic Journal
Truncating Variants in the Desmoplakin Gene Cause a Distinct Arrhythmogenic Cardiomyopathy
저자
by
Burns, C.
;
Hoorntje, E.
;
Corden, B.
;
Parikh, V.
;
Thompson, T.
, et al.
소스
In
Heart, Lung and Circulation
2019 28 Supplement 4:S134-S134
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7 . Academic Journal
A Case of Vascular Ehlers-Danlos Syndrome Presenting as a Non–Compaction Cardiomyopathy
저자
by
Lan, N.
;
Fietz, M.
;
Pachter, N.
;
Paul, V.
;
Playford, D.
.
소스
In
Heart, Lung and Circulation
2018 27 Supplement 2:S69-S70
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7 .
V. 001
저자
by
Voigt, C.
;
Stolarczuk, N.
;
Pflug, H.
;
Förste, C.
;
Flechtner, F.
, et al.
소스
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7 . Academic Journal
Expert recommendations for the laboratory diagnosis of MPS VI
저자
by
Wood, T.
;
Bodamer, O.A.
;
Burin, M.G.
;
D'Almeida, V.
;
Fietz, M.
, et al.
소스
Molecular Genetics & Metabolism
. May2012, Vol. 106 Issue 1, p73-82. 10p.
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7 . Academic Journal
Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.
저자
by
Walterfang, M.
;
Fietz, M.
;
Abel, L.
;
Bowman, E.
;
Mocellin, R.
, et al.
소스
Journal of Inherited Metabolic Disease; Dec2009 Supplement, Vol. 32, p221-226, 6p
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7 . Academic Journal
Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation.
저자
by
Thong, M.
;
Fietz, M.
;
Nicholls, C.
;
Lee, M.
;
Asma, O.
.
소스
Journal of Inherited Metabolic Disease; Dec2009 Supplement, Vol. 32, p41-44, 4p
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7 . Academic Journal
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.
저자
by
Shanti, B.
;
Silink, M.
;
Bhattacharya, K.
;
Howard, N.
;
Carpenter, K.
, et al.
소스
Journal of Inherited Metabolic Disease; Dec2009 Supplement, Vol. 32, p241-251, 11p
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7 . Academic Journal
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
저자
by
Coman, D.
;
Bostock, D.
;
Hunter, M.
;
Kannu, P.
;
Irving, M.
, et al.
소스
American Journal Of Medical Genetics - A
. Feb 01, 2008 146A(3):389-392
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7 . Academic Journal
A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia
저자
by
McKenzie, F. A.
;
Fietz, M.
;
Fletcher, J.
;
Smith, R. L.L.
;
Wright, I. M.R.
, et al.
소스
American Journal Of Medical Genetics - A
. Sep 01, 2007 143A(17):2029-2034
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