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1 .
A personalized medicine approach for phenylketonuria patients
저자
by
Gundorova P
;
Kasten, V.
;
Danecka, M.K.
;
Woidy, M.
;
Gersting, S.W.
.
소스
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7 . Academic Journal
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
저자
by
Schneeberger, P. E.
;
Kortuem, F.
;
Korenke, G. C.
;
Alawi, M.
;
Santer, R.
, et al.
소스
EUROPEAN JOURNAL OF HUMAN GENETICS
; DEC 2020, 28 SUPPL 1, p67-p68, 2p. Supplement: 1
Scopus
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7 . Academic Journal
Edgetic perturbations set phenotypic variability in PBD
저자
by
Lotz-Havla, A. S.
;
Woidy, M.
;
Guder, P.
;
Erdmann, R.
;
Muntau, A. C.
, et al.
소스
EUROPEAN JOURNAL OF PEDIATRICS
; SEP 2012, 171 9, p1425-p1426, 2p.
Full Text (Springer)
Scopus
Web of Science
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7 . Academic Journal
PEX26 ESTABLISHES A CENTRAL HUB IN THE PEROXISOMAL INTERACTOME AND INTERSECTS WITH CELLULAR LIPID METABOLISM
저자
by
Lotz-Havla, A. S.
;
Woidy, M.
;
Guder, P.
;
Erdmann, R.
;
Muntau, A. C.
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
; SEP 2012, 35 pS131-pS131, 1p. Supplement: 1
Scopus
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7 . Academic Journal
Dimerization points to alternative functions of PEX26
저자
by
Lotz, A. S.
;
Guder, P.
;
Woidy, M.
;
Messing, D. D.
;
Danecka, M. K.
, et al.
소스
EUROPEAN JOURNAL OF PEDIATRICS
; FEB 2011, 170 2, p268-p268, 1p.
Full Text (Springer)
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7 . Academic Journal
DISTINCT INTERACTION PATTERN OF A PEX19 SPLICE VARIANT THAT IS SENSITIZED TO NMD POINTS TO COMPLEX REGULATION MECHANISMS OF PEX19 FUNCTION
저자
by
Lotz-Havla, A. S.
;
Beckerath, C.
;
Mayerhofer, P. U.
;
Woidy, M.
;
Gersting, S. W.
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
; 2011, 34 pS172-pS172, 1p. Supplement: 3
Scopus
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7 . Academic Journal
NEW INSIGHTS INTO QUARTERNARY STRUCTURE OF PEX26 POINT TO POTENTIAL ALTERNATIVE FUNCTIONS OF THIS PEROXIN
저자
by
Lots, A. S.
;
Guder, P.
;
Woidy, M.
;
Messing, D. D.
;
Danecka, M. K.
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
; AUG 2010, 33 pS96-pS96, 1p. Supplement: 1
Scopus
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7 . Academic Journal
PHENYLALANINE HYDROXYLASE FUNCTION IN VITRO AND DRUG RESPONSE IN VIVO ARE DETERMINED BY BOTH PHENYLALANINE AND TETRAHYDROBIOPTERIN CONCENTRATIONS
저자
by
Staudigl, M.
;
Gersting, S. W.
;
Kemter, K. F.
;
Woidy, M.
;
Messing, D. D.
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
; AUG 2010, 33 pS113-pS113, 1p. Supplement: 1
Scopus
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7 . Academic Journal
NEW INSIGHTS INTO INTERALLELIC COMPLEMENTATION OF PHENYLALANINE HYDROXYLASE IN PHENYLKETONURIA
저자
by
Danecka, M. K.
;
Gersting, S. W.
;
Kemter, K. F.
;
Lotz, A. S.
;
Woidy, M.
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
; AUG 2010, 33 pS113-pS113, 1p. Supplement: 1
Scopus
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7 . Academic Journal
SYSTEMS ANALYSIS OF INHERITED DISEASES: STUDYING THE IMPACT OF MUTATIONS ON PROTEIN INTERACTIONS
저자
by
Gersting, S. W.
;
Lotz, A. S.
;
Woidy, M.
;
Messing, D. D.
;
Danecka, M. K.
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
; AUG 2010, 33 pS177-pS177, 1p. Supplement: 1
Scopus
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