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Mental retardation and inborn errors of metabolism.

Standard

Mental retardation and inborn errors of metabolism. / García-Cazorla, A; Wolf, Nicole I; Serrano, M; Moog, U; Pérez-Dueñas, B; Póo, P; Pineda, M; Campistol, J; Hoffmann, G F.

in: J INHERIT METAB DIS, Jahrgang 32, Nr. 5, 5, 2009, S. 597-608.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

García-Cazorla, A, Wolf, NI, Serrano, M, Moog, U, Pérez-Dueñas, B, Póo, P, Pineda, M, Campistol, J & Hoffmann, GF 2009, 'Mental retardation and inborn errors of metabolism.', J INHERIT METAB DIS, Jg. 32, Nr. 5, 5, S. 597-608. <http://www.ncbi.nlm.nih.gov/pubmed/19685154?dopt=Citation>

APA

García-Cazorla, A., Wolf, N. I., Serrano, M., Moog, U., Pérez-Dueñas, B., Póo, P., Pineda, M., Campistol, J., & Hoffmann, G. F. (2009). Mental retardation and inborn errors of metabolism. J INHERIT METAB DIS, 32(5), 597-608. [5]. http://www.ncbi.nlm.nih.gov/pubmed/19685154?dopt=Citation

Vancouver

García-Cazorla A, Wolf NI, Serrano M, Moog U, Pérez-Dueñas B, Póo P et al. Mental retardation and inborn errors of metabolism. J INHERIT METAB DIS. 2009;32(5):597-608. 5.

Bibtex

@article{25aa3c41088246f4976bfb5eb5e0da06,
title = "Mental retardation and inborn errors of metabolism.",
abstract = "In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.",
keywords = "Humans, Practice Guidelines as Topic, Algorithms, Infant, Newborn, Metabolism, Inborn Errors complications, Mental Retardation diagnosis, Neonatal Screening methods, Humans, Practice Guidelines as Topic, Algorithms, Infant, Newborn, Metabolism, Inborn Errors complications, Mental Retardation diagnosis, Neonatal Screening methods",
author = "A Garc{\'i}a-Cazorla and Wolf, {Nicole I} and M Serrano and U Moog and B P{\'e}rez-Due{\~n}as and P P{\'o}o and M Pineda and J Campistol and Hoffmann, {G F}",
year = "2009",
language = "Deutsch",
volume = "32",
pages = "597--608",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "5",

}

RIS

TY - JOUR

T1 - Mental retardation and inborn errors of metabolism.

AU - García-Cazorla, A

AU - Wolf, Nicole I

AU - Serrano, M

AU - Moog, U

AU - Pérez-Dueñas, B

AU - Póo, P

AU - Pineda, M

AU - Campistol, J

AU - Hoffmann, G F

PY - 2009

Y1 - 2009

N2 - In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.

AB - In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.

KW - Humans

KW - Practice Guidelines as Topic

KW - Algorithms

KW - Infant, Newborn

KW - Metabolism, Inborn Errors complications

KW - Mental Retardation diagnosis

KW - Neonatal Screening methods

KW - Humans

KW - Practice Guidelines as Topic

KW - Algorithms

KW - Infant, Newborn

KW - Metabolism, Inborn Errors complications

KW - Mental Retardation diagnosis

KW - Neonatal Screening methods

M3 - SCORING: Zeitschriftenaufsatz

VL - 32

SP - 597

EP - 608

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 5

M1 - 5

ER -