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作者：
Abdellah,Tebani [1]
;
Bénédicte,Sudrié-Arnaud [2]
;
Ivana,Dabaj [1]
;
Stéphanie,Torre [2]
;
Laur,Domitille [3]
;
Sarah,Snanoudj [3]
;
Benedicte,Heron [4]
;
Thierry,Levade [1]
;
Catherine,Caillaud [2]
;
Sabrina,Vergnaud [5]
;
Pascale,Saugier-Veber [6]
;
Sophie,Coutant [7]
;
Hélène,Dranguet [8]
;
Roseline,Froissart [9]
;
Majed,Al Khouri [2]
;
Yves,Alembik [10]
;
Julien,Baruteau [1]
;
Jean-Baptiste,Arnoux [11]
;
Anais,Brassier [12]
;
Anne-Claire,Brehin [13]
;
Tiffany,Busa [14]
;
Aline,Cano [15]
;
Brigitte,Chabrol [16]
;
Christine,Coubes [2]
;
Isabelle,Desguerre [17]
;
Martine,Doco-Fenzy [18]
;
Bernard,Drenou [18]
;
Nursel H,Elcioglu [19]
;
Solaf,Elsayed [20]
;
Alain,Fouilhoux [21]
;
Céline,Poirsier [22]
;
Alice,Goldenberg [23]
;
Philippe,Jouvencel [24]
;
Alice,Kuster [25]
;
François,Labarthe [26]
;
Leila,Lazaro [27]
;
Samia,Pichard [10]
;
Serge,Rivera [28]
;
Sandrine,Roche [29]
;
Stéphanie,Roggerone [30]
;
Agathe,Roubertie [28]
;
Sabine,Sigaudy [31]
;
Marta,Spodenkiewicz [28]
;
Marine,Tardieu [32]
;
Catherine,Vanhulle [33]
;
Stéphane,Marret [34]
;
Soumeya,Bekri [35]
作者单位：
Department of Metabolic Biochemistry, Rouen University Hospital, Rouen, France.
[1]
Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
[2]
Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, Rouen, France.
[3]
Pediatric Neurology Department, Robert Debré Hospital, Public Hospital Network of Paris, Paris, France.
[4]
Reference Center for Lysosomal Diseases, Pediatric Neurology Department, UH Armand Trousseau-La Roche Guyon, APHP, GUEP, Paris, France.
[5]
Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France.
[6]
Cancer Research Center, INSERM UMR1037 CRCT, Toulouse, France.
[7]
Biochemistry, Metabolomic and Proteomic Department, Necker Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, UMRS 1151, INSERM, Institute Necker Enfants Malades, Paris Descartes University, Paris, France.
[8]
UF Maladies Héréditaires Enzymatiques Rares-CGD, Institut de Biologie et de Pathologies, CHU de Grenoble Alpes, Grenoble, France.
[9]
Department of Genetics, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F76000, Normandy Centre for Genomic and Personalized Medicine, ROUEN, France.
[10]
Biochemical and Molecular Biology Department, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon, Lyon, France.
[11]
Department of Pediatric Gastroenterology, hepatology and Nutrition, University hospital of Montpellier, Montpellier, France.
[12]
Department of Clinical Genetic, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
[13]
Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Institute of Child Health, University College London, London, UK.
[14]
Department of Inherited Metabolic Disease, Necker-Enfants Malades University Hospital, AP-HP, Paris, France.
[15]
Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, University Paris Descartes, Paris, France.
[16]
Département de Génétique Médicale, Hôpital Timone Enfant, Marseille, France.
[17]
Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neuropédiatrie, CHU La Timone Enfants, APHM, Marseille, France.
[18]
Genetic Services, A. de Villeneuve Hospital, Montpellier, France.
[19]
Department of Paediatric Neurology, Hopital universitaire Necker-Enfants malades Service de Pediatrie generale, Paris, Île-de-France, France.
[20]
Service de génétique, CHRU Reims, Reims, France.
[21]
EA3801, UFR médecine, France.
[22]
Department of Hematolog, Hôpital Emile Muller - CH de Mulhouse, Mulhouse, France.
[23]
Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
[24]
Genetics, Children's Hospital, Ain Shams University, Cairo, Egypt.
[25]
Department of Pediatric Metabolism, Reference Center of Inherited Metabolic Disorders, Femme Mère Enfant Hospital, Lyon, France.
[26]
Genetic department, CHU-Reims, EA3801, SFR CAP santé, Reims, France.
[27]
Department of Neonatology and Paediatrics, Centre Hospitalier de la Côte Basque, Bayonne, France.
[28]
Pediatric Critical Care Unit, Femme-Enfants-Adolescents Hospital, Nantes University, Nantes, France.
[29]
Regional University Hospital Centre Tours, Tours, Centre, France.
[30]
Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, APHP, Paris, France.
[31]
Department of Pediatrics, Bordeaux University Hospital, Bordeaux, France.
[32]
CHU Lyon, Lyon, Auvergne-Rhône-Alpes, France.
[33]
INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, Hérault, France.
[34]
Département de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France.
[35]
Genetics, Hôpital d'Enfants de la Timone, Marseille, France.
[36]
Department of Pediatrics, Reference Center of Inherited Metabolic Disorders, Clocheville Hospital, Tours, France.
[37]
Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, Normandy Center for Genomic and Personalized Medicine, Rouen, France soumeya.bekri@chu-rouen.fr.
[38]
Department of Metabolic Biochemistry, University Hospital Centre Rouen, Rouen, Normandie, France.
[39]
主题词
女(雌)性(Female);G(M1)神经节苷脂(G(M1) Ganglioside);神经节苷脂累积病, GM1型(Gangliosidosis, GM1);人类(Humans);黏多糖累积病Ⅳ型(Mucopolysaccharidosis IV);突变(Mutation);妊娠(Pregnancy);β半乳糖苷酶类(beta-Galactosidase)
DOI
10.1136/jmedgenet-2020-107510
PMID
33737400
发布时间
2022-05-09
- 浏览4
Journal of medical genetics
Journal of medical genetics
377-384页
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