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J-GLOBAL ID：201702284420857342 整理番号：17A1378880

3 メチルグルタコン酸酸尿症,カルバモイルりん酸シンテターゼI欠損症における高頻度であるが認識されにくい所見【Powered by NICT】

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

著者 (33件)：

Rokicki Dariusz

(Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland)

Pajdowska Magdalena

(Department of Biochemistry and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland)

Trubicka Joanna

(Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland)

Thong Meow-Keong

(Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia)

Ciara Elzbieta

(Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland)

Piekutowska-Abramczuk Dorota

(Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland)

Pronicki Maciej

(Department of Pathology, The Children’s Memorial Health Institute, Warsaw, Poland)

Sikora Roman

(Ward of Neonatal Pathology and Intensive Care, Regional Specialist Hospital, Czestochowa, Poland)

Haidar Rijad

(District Hospital, Biala Podlaska, Poland)

Oltarzewski Mariusz

(Institute of Mother and Child, Warsaw, Poland)

Jablonska Ewa

(Institute of Mother and Child, Warsaw, Poland)

Muthukumarasamy Premala

(Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia)

Sthaneswar Pavai

(Department of Pathology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia)

Gan Chin-Seng

(Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia)

Krajewska-Walasek Malgorzata

(Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland)

Carrozzo Rosalba

(Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children’s Hospital, IRCCS, Rome, Italy)

Verrigni Daniela

(Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children’s Hospital, IRCCS, Rome, Italy)

Semeraro Michela

(Division of Metabolism, Bambino Gesu Children’s Hospital, Rome, Italy)

Rizzo Cristiano

(Division of Metabolism, Bambino Gesu Children’s Hospital, Rome, Italy)

Taurisano Roberta

(Division of Metabolism, Bambino Gesu Children’s Hospital, Rome, Italy)

Alhaddad Bader

(Department of Human Genetics, Technical University Munich, Munich, Germany)

Alhaddad Bader

(Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany)

Kovacs-Nagy Reka

(Department of Human Genetics, Technical University Munich, Munich, Germany)

Kovacs-Nagy Reka

(Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany)

Haack Tobias B.

(Department of Human Genetics, Technical University Munich, Munich, Germany)

Haack Tobias B.

(Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany)

Haack Tobias B.

(Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany)

Dionisi-Vici Carlo

(Division of Metabolism, Bambino Gesu Children’s Hospital, Rome, Italy)

Pronicka Ewa

(Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland)

Pronicka Ewa

(Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland)

Wortmann Saskia B.

(Department of Human Genetics, Technical University Munich, Munich, Germany)

Wortmann Saskia B.

(Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany)

Wortmann Saskia B.

(Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria)

資料名：

Clinica Chimica Acta (Clinica Chimica Acta)

巻： 471 ページ： 95-100 発行年： 2017年
JST資料番号： H0758A ISSN： 0009-8981 CODEN： CCATAR 資料種別：逐次刊行物 (A)
記事区分：原著論文発行国：オランダ (NLD) 言語：英語 (EN)

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