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Titolo:
Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomalmosaicism
Autore:
Pineda, M; Giros, M; Roels, F; Espeel, M; Ruiz, M; Moser, A; Moser, HW; Wanders, RJA; Pavia, C; Conill, J; Aracil, A; Amat, L; Pampols, T;
Indirizzi:
Hosp St Joan Deu, Barcelona 08950, Spain Hosp St Joan Deu Barcelona Spain 08950 Joan Deu, Barcelona 08950, Spain Inst Bioquim Clin, Barcelona, Spain Inst Bioquim Clin Barcelona SpainInst Bioquim Clin, Barcelona, Spain Univ Ghent, Dept Human Anat Embryol & Histol, Ghent, Belgium Univ Ghent Ghent Belgium pt Human Anat Embryol & Histol, Ghent, Belgium Kennedy Krieger Inst, Baltimore, MD USA Kennedy Krieger Inst Baltimore MDUSA dy Krieger Inst, Baltimore, MD USA Wilhelmina Childrens Hosp, Utrecht, Netherlands Wilhelmina Childrens HospUtrecht Netherlands osp, Utrecht, Netherlands
Titolo Testata:
JOURNAL OF CHILD NEUROLOGY
fascicolo: 7, volume: 14, anno: 1999,
pagine: 434 - 439
SICI:
0883-0738(199907)14:7<434:DAFOAC>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA; BIOGENESIS DISORDERS; PTS2 RECEPTOR; PROTEIN IMPORT; HUMAN PEX7; GENE; DEFICIENCY; ENCODES; FIBROBLASTS; STABILITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Pineda, M Hosp St Joan Deu, Passeig St Joan Deu N2, Barcelona 08950, SpainHosp St Joan Deu Passeig St Joan Deu N2 Barcelona Spain 08950 n
Citazione:
M. Pineda et al., "Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomalmosaicism", J CHILD NEU, 14(7), 1999, pp. 434-439

Abstract

Peroxisomal disorder phenotypes are the result of mutations that cause defective peroxisomal assembly or alterations in the import mechanism of peroxisomal proteins that lead to multiple peroxisomal dysfunctions, or the result; of a peroxisomal enzymatic deficiency with a single peroxisomal dysfunction. With complementation analysis, 16 groups have been found. Assignment of the genetic defect has been described for some of the complementation groups. We describe the clinical evolution and follow-up over 10 years of a patient who belongs to complementation group 4, although he showed a milder clinical course. It has been found in fibroblasts different peroxisome populations, normal processing and expression of beta-oxidation PTS1 and PTS2 proteins, abnormal ALD protein distribution and normal plasmalogen biosynthesis; abnormal beta-oxidation metabolites have also been detected in serum. Ultrastructural studies in liver showed peroxisomal mosaicism as in fibroblasts. It has been taken into account that peroxisomal mosaicism may lead tovariability in peroxisomal diagnostic parameters, making difficult the final diagnosis in these patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 05:39:37