Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

R Horváth; P Freisinger; R Rubio; T Merl; R Bax; Johannes A. Mayr; Shawan; J Müller-Höcker; D Pongratz; L B Moller; N Horn; M Jaksch

doi:10.1007/s10545-005-0479-x

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

R Horváth
, P Freisinger
, R Rubio
, T Merl
, R Bax
, Johannes A. Mayr (Co-author)
, Shawan
, J Müller-Höcker
, D Pongratz
, L B Moller
, N Horn
, M Jaksch

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

18 Citations (Web of Science)

Original language	English
Pages (from-to)	479-492
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	28
Issue number	4
DOIs	https://doi.org/10.1007/s10545-005-0479-x
Publication status	Published - 2005

Keywords

C-OXIDASE DEFICIENCY
MENKES-DISEASE
HYPERTROPHIC CARDIOMYOPATHY
BINDING-PROTEIN
CYTOCHROME-OXIDASE
COX DEFICIENCY
CANDIDATE GENE
ASSEMBLY GENE
SCO2
MUTATIONS

Access to Document

10.1007/s10545-005-0479-x

Cite this

Horváth, R., Freisinger, P., Rubio, R., Merl, T., Bax, R., Mayr, J. A., Shawan, Müller-Höcker, J., Pongratz, D., Moller, L. B., Horn, N., & Jaksch, M. (2005). Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. JOURNAL OF INHERITED METABOLIC DISEASE , 28(4), 479-492. https://doi.org/10.1007/s10545-005-0479-x

Horváth, R ; Freisinger, P ; Rubio, R et al. / Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. In: JOURNAL OF INHERITED METABOLIC DISEASE 2005 ; Vol. 28, No. 4. pp. 479-492.

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title = "Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.",

keywords = "C-OXIDASE DEFICIENCY, MENKES-DISEASE, HYPERTROPHIC CARDIOMYOPATHY, BINDING-PROTEIN, CYTOCHROME-OXIDASE, COX DEFICIENCY, CANDIDATE GENE, ASSEMBLY GENE, SCO2, MUTATIONS",

author = "R Horv{\'a}th and P Freisinger and R Rubio and T Merl and R Bax and Mayr, \{Johannes A.\} and Shawan and J M{\"u}ller-H{\"o}cker and D Pongratz and Moller, \{L B\} and N Horn and M Jaksch",

note = "Mayr: Univ Childrens Hosp, Salzburg, Austria",

year = "2005",

doi = "10.1007/s10545-005-0479-x",

language = "English",

volume = "28",

pages = "479--492",

journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",

issn = "0141-8955",

publisher = "Wiley Verlag ",

number = "4",

}

Horváth, R, Freisinger, P, Rubio, R, Merl, T, Bax, R, Mayr, JA, Shawan, Müller-Höcker, J, Pongratz, D, Moller, LB, Horn, N & Jaksch, M 2005, 'Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 28, no. 4, pp. 479-492. https://doi.org/10.1007/s10545-005-0479-x

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. / Horváth, R; Freisinger, P; Rubio, R et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 28, No. 4, 2005, p. 479-492.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

AU - Horváth, R

AU - Freisinger, P

AU - Rubio, R

AU - Merl, T

AU - Bax, R

AU - Mayr, Johannes A.

AU - Shawan, null

AU - Müller-Höcker, J

AU - Pongratz, D

AU - Moller, L B

AU - Horn, N

AU - Jaksch, M

N1 - Mayr: Univ Childrens Hosp, Salzburg, Austria

PY - 2005

Y1 - 2005

KW - C-OXIDASE DEFICIENCY

KW - MENKES-DISEASE

KW - HYPERTROPHIC CARDIOMYOPATHY

KW - BINDING-PROTEIN

KW - CYTOCHROME-OXIDASE

KW - COX DEFICIENCY

KW - CANDIDATE GENE

KW - ASSEMBLY GENE

KW - SCO2

KW - MUTATIONS

U2 - 10.1007/s10545-005-0479-x

DO - 10.1007/s10545-005-0479-x

M3 - Original Article

C2 - 15902551

SN - 0141-8955

VL - 28

SP - 479

EP - 492

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 4

ER -

Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA et al. Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. JOURNAL OF INHERITED METABOLIC DISEASE . 2005;28(4):479-492. doi: 10.1007/s10545-005-0479-x