المؤلفون: Farris N; Division of Pediatric Hematology and Oncology, University of Rochester Medical Center, Rochester, New York, USA., Sandell A; Division of Gastroenterology, University of Rochester Medical Center, Rochester, New York, USA.

المصدر: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Aug; Vol. 71 (8), pp. e31094. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Zellweger Syndrome*/complications , Zellweger Syndrome*/pathology, Humans ; Blood Coagulation Disorders/complications ; Blood Coagulation Disorders/etiology ; Male ; Female

المؤلفون: Karuntu JS; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Klouwer FCC; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Engelen M; Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Boon CJF; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.; Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, The Netherlands.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2024 Aug; Vol. 45 (4), pp. 351-362. Date of Electronic Publication: 2024 Apr 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Visual Acuity*/physiology , Zellweger Syndrome*/genetics , Zellweger Syndrome*/diagnosis , Zellweger Syndrome*/physiopathology , Tomography, Optical Coherence* , Phenotype*, Humans ; Male ; Female ; Adult ; Adolescent ; Cross-Sectional Studies ; Young Adult ; Peroxins/genetics ; Ophthalmoscopy ; ATPases Associated with Diverse Cellular Activities/genetics ; Mutation ; Visual Fields/physiology ; Visual Field Tests ; Electroretinography ; Pedigree ; Membrane Proteins

المؤلفون: Yang P; School of Medicine, Department of Medicine, Wuhan University of Science and Technology, Wuhan 430081, China; Division of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430010, China., Zhang W; Department of Rehabilitation Medicine, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430010, China., Zeng L; Division of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430010, China. Electronic address: zenglingkong@zgwhfe.com., Tao X; Division of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430010, China., Ding K; Division of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430010, China., Wang Z; Division of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430010, China.

المصدر: Gene [Gene] 2024 Nov 30; Vol. 928, pp. 148767. Date of Electronic Publication: 2024 Jul 14.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Zellweger Syndrome*/genetics , Introns* , ATPases Associated with Diverse Cellular Activities*/genetics, Humans ; Infant, Newborn ; Male ; Exome Sequencing ; Mutation ; RNA Splicing ; Membrane Proteins/genetics ; Pedigree ; Asian People/genetics ; Peroxins/genetics ; China ; Female ; East Asian People

المؤلفون: Menon J; Department of Pediatric Gastroenterology & Hepatology, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education and Research, Chennai, India. jagadeeshmenonv@gmail.com., Shanmugam N; Department of Pediatric Gastroenterology & Hepatology, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education and Research, Chennai, India., Vij M; Department of Histopathology, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Rammohan A; Department of Hepatobiliary Surgery and Liver Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education and Research, Chennai, India., Rela M; Department of Hepatobiliary Surgery and Liver Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education and Research, Chennai, India.

المصدر: Indian journal of pediatrics [Indian J Pediatr] 2024 May; Vol. 91 (5), pp. 507-509. Date of Electronic Publication: 2023 Dec 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Zellweger Syndrome*/pathology , Liver Transplantation* , Hypertension, Portal* , Exophthalmos*/pathology, Male ; Humans ; Liver Cirrhosis ; Liver/pathology

المؤلفون: Yogi P; Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal., Bahik C; Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal., Yadav R; Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal., Bhattarai P; Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal., Pandey R; Sindhuli Hospital, Kamalamai, Sindhuli, Nepal., Manandar SR; Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.

المصدر: JNMA; journal of the Nepal Medical Association [JNMA J Nepal Med Assoc] 2024 Feb 24; Vol. 62 (270), pp. 155-157. Date of Electronic Publication: 2024 Feb 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Nepal Medical Association Country of Publication: Nepal NLM ID: 0045233 Publication Model: Electronic Cited Medium: Internet ISSN: 1815-672X (Electronic) Linking ISSN: 00282715 NLM ISO Abbreviation: JNMA J Nepal Med Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Zellweger Syndrome*/diagnosis , Zellweger Syndrome*/genetics , Peroxisomal Disorders*/genetics, Infant, Newborn ; Humans ; Male ; Infant ; Muscle Hypotonia/genetics ; Genetic Testing ; Mutation

المؤلفون: Yang P; School of Medicine, Department of Medicine, Wuhan University of Science and Technology, Wuhan 430000, China., Zeng CZ; Department of Pediatric Intensive Care Unit, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524000, China., Tao XW; Division of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430000, China., Rong SW; Department of Pediatric Intensive Care Unit, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524000, China., Long Y; Division of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430000, China., Zeng LK; Division of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430000, China.

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Jan 02; Vol. 62 (1), pp. 43-48.

نوع المنشور: Review; Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Zellweger Syndrome*/genetics , Zellweger Syndrome*/diagnosis, Child ; Infant, Newborn ; Humans ; Male ; Adolescent ; Muscle Hypotonia ; Retrospective Studies ; Frameshift Mutation ; Exome Sequencing ; Mutation ; ATPases Associated with Diverse Cellular Activities/genetics

المؤلفون: Su L; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P. R. China., Peng MZ; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P. R. China., Chen XD; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P. R. China., Wu S; School of Pediatrics, Guangzhou Medical University, Guangzhou, P. R. China., Liu L; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P. R. China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2315. Date of Electronic Publication: 2023 Nov 14.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Zellweger Syndrome*/genetics , Zellweger Syndrome*/metabolism , Peroxisomal Disorders*/genetics, Infant ; Humans ; Mutation, Missense ; Mutation ; Membrane Proteins/genetics ; Membrane Proteins/metabolism

SCR Disease Name: Peroxisome biogenesis disorders

المؤلفون: Dong SS; Child Rehabilitation Center, Jiangmen Maternal and Child Health Hospital, Jiangmen 529000, China., Huang XL; Child Rehabilitation Center, Jiangmen Maternal and Child Health Hospital, Jiangmen 529000, China., Chen YJ; Child Rehabilitation Center, Jiangmen Maternal and Child Health Hospital, Jiangmen 529000, China.

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Mar 25; Vol. 62 (4), pp. 376-378.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Zellweger Syndrome*/genetics, Humans ; Mutation ; Membrane Proteins/genetics

المؤلفون: Parsons BD; University of Alberta, Department of Laboratory Medicine and Pathology, Edmonton, AB T6G 1C9, Canada., Medina-Luna D; Dalhousie University, Department of Microbiology and Immunology, Halifax, NS B3K 6R8, Canada., Scur M; Dalhousie University, Department of Microbiology and Immunology, Halifax, NS B3K 6R8, Canada., Pinelli M; Dalhousie University, Department of Microbiology and Immunology, Halifax, NS B3K 6R8, Canada., Gamage GS; Dalhousie University, Department of Microbiology and Immunology, Halifax, NS B3K 6R8, Canada., Chilvers RA; Dalhousie University, Department of Microbiology and Immunology, Halifax, NS B3K 6R8, Canada., Hamon Y; Aix Marseille University, CNRS, INSERM au Centre d'Immunologie de Marseille Luminy, 13288 Marseille, France., Ahmed IHI; Dalhousie University, Department of Pharmacology, Halifax, NS B3H 4R2, Canada; Beatrice Hunter Cancer Research Institute, Halifax, NS, Canada., Savary S; University of Bourgogne, Laboratoire Bio-PeroxIL EA7270, Dijon, France., Makrigiannis AP; Dalhousie University, Department of Microbiology and Immunology, Halifax, NS B3K 6R8, Canada; Beatrice Hunter Cancer Research Institute, Halifax, NS, Canada., Braverman NE; Research Institute of the McGill University Children's Hospital, Montreal, QC H4A 3J1, Canada., Rodriguez-Alcazar JF; University of Bonn, Institute of Innate Immunity, Medical Faculty, 53127 Bonn, Germany., Latz E; University of Bonn, Institute of Innate Immunity, Medical Faculty, 53127 Bonn, Germany., Karakach TK; Dalhousie University, Department of Pharmacology, Halifax, NS B3H 4R2, Canada; Beatrice Hunter Cancer Research Institute, Halifax, NS, Canada., Di Cara F; University of Alberta, Department of Laboratory Medicine and Pathology, Edmonton, AB T6G 1C9, Canada; Beatrice Hunter Cancer Research Institute, Halifax, NS, Canada. Electronic address: dicara@dal.ca.

المصدر: Cell reports [Cell Rep] 2024 Feb 27; Vol. 43 (2), pp. 113744. Date of Electronic Publication: 2024 Feb 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Zellweger Syndrome*/metabolism , Peroxisomal Disorders*/metabolism, Animals ; Mice ; Peroxisomes/metabolism ; Antigen Presentation

SCR Disease Name: Peroxisome biogenesis disorders

المؤلفون: Yergeau C; Child Health and Human Development Axis, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Coussa RG; Dean McGee Eye Institute, Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma; The Children's Hospital of Oklahoma, Oklahoma City, Oklahoma; Department of Ophthalmology, McGill University, Montreal, Quebec, Canada., Antaki F; Department of Ophthalmology, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada., Argyriou C; Child Health and Human Development Axis, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address: catherine.argyriou@mail.mcgill.ca., Koenekoop RK; Department of Ophthalmology, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Paediatric Surgery, McGill University, Montreal, Quebec, Canada., Braverman NE; Child Health and Human Development Axis, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada.

المصدر: Ophthalmology [Ophthalmology] 2023 Dec; Vol. 130 (12), pp. 1313-1326. Date of Electronic Publication: 2023 Aug 02.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

مواضيع طبية MeSH: Evoked Potentials, Visual* , Zellweger Syndrome*, Humans ; Child ; Infant ; Child, Preschool ; Adolescent ; Young Adult ; Adult ; Cross-Sectional Studies ; Retrospective Studies ; Blindness ; Retina