المؤلفون: van de Vlekkert D; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Hu H; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Weesner JA; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Fremuth LE; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Brown SA; Department of Immunology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Lu M; Devision of Comparative Pathology, Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Gomero E; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Campos Y; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Sheppard H; Devision of Comparative Pathology, Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., d'Azzo A; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Anatomy and Neurobiology, College of Graduate Health Sciences, University of Tennessee Health Science Center, Memphis, TN 38163, USA. Electronic address: sandra.dazzo@stjude.org.

المصدر: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Jul 03; Vol. 32 (7), pp. 2094-2112. Date of Electronic Publication: 2024 May 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

مواضيع طبية MeSH: Dependovirus*/genetics , Genetic Therapy*/methods , Mucolipidoses*/therapy , Mucolipidoses*/genetics , Neuraminidase*/genetics , Neuraminidase*/metabolism , Genetic Vectors*/genetics , Genetic Vectors*/administration & dosage , Disease Models, Animal*, Animals ; Mice ; Humans ; Lysosomes/metabolism ; Mice, Knockout ; Transduction, Genetic ; Gene Expression

SCR Disease Name: Neuraminidase 1 deficiency

المؤلفون: Burgac E; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Kaplan İ; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Köseci B; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Kara E; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Kor D; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Bulut FD; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey., Atmış A; Pediatric Cardiology Department, Cukurova University, Adana, Turkey., Pişkin F; Radiology Department, Cukurova University, Adana, Turkey., Tuğ Bozdoğan S; Medical Genetics Department, Cukurova University, Adana, Turkey., Urel Demir G; Pediatric Genetics Department, Hacettepe University, Ankara, Turkey., İncecik F; Pediatric Neurology Department, Cukurova University, Adana, Turkey., Önenli Mungan N; Pediatric Metabolism and Nutrition Department, Cukurova University, Adana, Turkey.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63545. Date of Electronic Publication: 2024 Jan 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Mucolipidoses*/genetics , Mucolipidoses*/diagnosis , Mucolipidoses*/diagnostic imaging , Mucolipidoses*/pathology, Humans ; Male ; Female ; Infant ; Child, Preschool ; Child ; Transferases (Other Substituted Phosphate Groups)/genetics ; Mutation/genetics ; Radiography ; Early Diagnosis ; Infant, Newborn ; Phenotype

المؤلفون: Hwu WL; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan, ROC. hwuwlntu@ntu.edu.tw.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, ROC. hwuwlntu@ntu.edu.tw.; Precision Medical Center, China Medical University Hospital, Taichung City, Taiwan, ROC. hwuwlntu@ntu.edu.tw., Chang K; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan, ROC., Liu YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, ROC., Wang HC; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan, ROC., Lee NC; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan, ROC.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, ROC., Chien YH; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan, ROC.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, ROC.

المصدر: Gene therapy [Gene Ther] 2024 May; Vol. 31 (5-6), pp. 263-272. Date of Electronic Publication: 2024 Feb 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5462 (Electronic) Linking ISSN: 09697128 NLM ISO Abbreviation: Gene Ther Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Therapy*/methods , Neuraminidase*/genetics , Neuraminidase*/metabolism , Dependovirus*/genetics , Mucolipidoses*/therapy , Mucolipidoses*/genetics , Mice, Knockout* , Genetic Vectors*/administration & dosage , Genetic Vectors*/genetics , Disease Models, Animal*, Animals ; Mice ; Cathepsin A/genetics ; Cathepsin A/metabolism ; Humans ; Brain/metabolism

SCR Disease Name: Neuraminidase 1 deficiency

المؤلفون: Panigrahi I; Genetic Metabolic Unit, Dept. of Pediatrics, PGIMER, Chandigarh, India. Electronic address: panigrahi.inusha@pgimer.edu.in., Grover S; Dept. of Pediatrics, Cloudnine Hospital, Chandigarh, India., Hiranandani M; Dept. of Pediatrics, Cloudnine Hospital, Chandigarh, India., Sheth J; FRIGE Centre, Satellite Road, Ahmedabad, India.

المصدر: Pediatrics and neonatology [Pediatr Neonatol] 2024 Mar; Vol. 65 (2), pp. 212-213. Date of Electronic Publication: 2024 Jan 26.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Singapore NLM ID: 101484755 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-1692 (Electronic) Linking ISSN: 18759572 NLM ISO Abbreviation: Pediatr Neonatol Subsets: MEDLINE

مواضيع طبية MeSH: Hydrops Fetalis*/diagnosis , Hydrops Fetalis*/etiology , Mucolipidoses*/complications , Mucolipidoses*/diagnosis, Female ; Humans

المؤلفون: Hsueh SJ; Department of Neurology, Yunlin County, National Taiwan University Hospital Yunlin Branch, 579 Sec. 2 Yunlin Road, Douliu, Taiwan., Lin CH; Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, 10002, Taiwan., Lee NC; Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, Taipei, Taiwan., Chang TM; Department of Pediatrics, Changhua Christian Hospital, 320 Hsu-Kuang Road, Changhua, Taiwan., Fan SP; Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, 10002, Taiwan., Huang WD; Department of Neurology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu County, 2, Sec. 1, Shengyi Road, Zhubei City, Taiwan., Lin YH; Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, 10002, Taiwan., Tsai LK; Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, 10002, Taiwan.; Department of Neurology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu County, 2, Sec. 1, Shengyi Road, Zhubei City, Taiwan., Chien YH; Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, Taipei, Taiwan., Lee MJ; Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, 10002, Taiwan., Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, Taipei, Taiwan., Hsueh HW; Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, 10002, Taiwan. b93401044@ntu.edu.tw.; Department of Anatomy and Cell Biology, National Taiwan University College of Medicine, 1 Renai. Road, Taipei, Taiwan. b93401044@ntu.edu.tw., Yang CC; Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, 10002, Taiwan. jesse6627@gmail.com.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 24; Vol. 19 (1), pp. 217. Date of Electronic Publication: 2024 May 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Mucolipidoses*/physiopathology , Electromyography*, Humans ; Male ; Female ; Adult ; Neural Conduction/physiology ; Young Adult ; Peripheral Nerves/physiopathology ; Peripheral Nerves/pathology ; Adolescent ; Peripheral Nervous System/physiopathology ; Evoked Potentials, Somatosensory/physiology ; Middle Aged ; Child

المؤلفون: Xia J; Prenatal and Genetic Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net., Zhang X, Liu H, Kong X

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar 10; Vol. 41 (3), pp. 339-344.

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

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Acidosis* , Malabsorption Syndromes*/genetics , Microvilli*/pathology , Mucolipidoses*/genetics , Myosin Type V*/genetics, Female ; Humans ; Infant ; Infant, Newborn ; Male ; Pregnancy ; Diarrhea/genetics ; Myosin Heavy Chains

SCR Disease Name: Microvillus inclusion disease

المؤلفون: Patterson K; From the Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA (K.P., M.J.B.)., Chong JX; Department of Pediatrics and Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, USA (J.X.C.)., Chung DD; Department of Ophthalmology, Stein Eye Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA (D.D.C., A.J.A.)., Lisch W; Department of Ophthalmology, University Medical Center of the Johannes Gutenberg- University Mainz, 55131 Mainz, Germany (W.L.)., Karp CL; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller, School of Medicine, Miami, USA (C.L.K.)., Dreisler E; Independent scholar, N.Jespersensvej 3, DK-2000 Copenhagen, Frederiksberg, Denmark (E.D.)., Lockington D; Tennent Institute of Ophthalmology, NHS Greater Glasgow and Clyde, Gartnavel General Hospital, 1053 Great Western Road, Glasgow, G12 0YN, UK (D.L.)., Rohrbach JM; Universitäts-Augenklinik, Elfriede-Aulhorn-Str. 7, 72076, Tübingen, Deutschland (J.M.R.)., Garczarczyk-Asim D; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria (D.G.-A., T.M., A.R.J.)., Müller T; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria (D.G.-A., T.M., A.R.J.)., Tuft SJ; Moorfields eye hospital NHS foundation trust, London, UK (S.J.T.); UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK (A.E.D.)., Skalicka P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (P.S., P.L.)., Wilnai Y; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel (Y.W.)., Samra NN; Genetic Unit, Sieff hospital, Bar Ilan University Faculty of Medicine, Safed, Israel (N.N.S.)., Ibrahim A; Ophthalmology unit, Maccabi and Clalit Health Services, Magdal Shams Medical center, Golan Heights, Israel (A.I.)., Mandel H; Pediatric Metabolic Clinic, Sieff hospital, Bar Ilan University Faculty of Medicine, Safed, Israel (H.M.)., Davidson AE; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK (A.E.D.)., Liskova P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (P.S., P.L.); Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic (P.S.,P.L.)., Aldave AJ; Department of Ophthalmology, Stein Eye Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA (D.D.C., A.J.A.)., Bamshad MJ; From the Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA (K.P., M.J.B.); Department of Pediatrics and Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, USA (J.X.C.)., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria (D.G.-A., T.M., A.R.J.); Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria (A.R.J.). Electronic address: andreas.janecke@i-med.ac.at.

المصدر: American journal of ophthalmology [Am J Ophthalmol] 2024 Feb; Vol. 258, pp. 183-195. Date of Electronic Publication: 2023 Nov 14.

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Transient Receptor Potential Channels*/genetics , Mucolipidoses*/diagnosis , Mucolipidoses*/genetics , Mucolipidoses*/pathology , Corneal Dystrophies, Hereditary*/diagnosis , Corneal Dystrophies, Hereditary*/genetics, Humans ; Cohort Studies

SCR Disease Name: Corneal Dystrophy, Lisch Epithelial

المؤلفون: Sun M; Department of Biomedical Sciences of Cells and Systems, Center for Liver Digestive & Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Pylypenko O; Dynamics of Intra-Cellular Organization, Institute Curie, PSL Research University, CNRS UMR144, Paris, France., Zhou Z; Department of Biomedical Sciences of Cells and Systems, Center for Liver Digestive & Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Xu M; Department of Biomedical Sciences of Cells and Systems, Center for Liver Digestive & Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Li Q; Department of Biomedical Sciences of Cells and Systems, Center for Liver Digestive & Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Houdusse A; Structural Motility, Institute Curie, PSL Research University, CNRS UMR144, Paris, France., van IJzendoorn SCD; Department of Biomedical Sciences of Cells and Systems, Center for Liver Digestive & Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. Electronic address: s.c.d.v.an.ijzendoorn@umcg.nl.

المصدر: Cellular and molecular gastroenterology and hepatology [Cell Mol Gastroenterol Hepatol] 2024; Vol. 17 (6), pp. 983-1005. Date of Electronic Publication: 2024 Feb 01.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: American Gastroenterological Association Country of Publication: United States NLM ID: 101648302 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-345X (Electronic) Linking ISSN: 2352345X NLM ISO Abbreviation: Cell Mol Gastroenterol Hepatol Subsets: MEDLINE

مواضيع طبية MeSH: Mucolipidoses*/genetics , Mucolipidoses*/pathology , Microvilli*/pathology , Microvilli*/genetics , Malabsorption Syndromes*/genetics , Malabsorption Syndromes*/pathology , Phenotype*, Humans ; Animals ; Myosin Type V/genetics ; Myosin Type V/metabolism ; Mutation ; Genetic Predisposition to Disease

SCR Disease Name: Microvillus inclusion disease

المؤلفون: Itoh K; Department of Medicinal Biotechnology, Institute for Medicinal Biotechnology, Graduate School of Pharmaceutical Sciences, Tokushima University, Tokushima, Japan. kitoh@tokushima-u.ac.jp., Tsukimoto J; Department of Medicinal Biotechnology, Institute for Medicinal Biotechnology, Graduate School of Pharmaceutical Sciences, Tokushima University, Tokushima, Japan.

المصدر: Glycoconjugate journal [Glycoconj J] 2023 Dec; Vol. 40 (6), pp. 611-619. Date of Electronic Publication: 2023 Dec 26.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 8603310 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4986 (Electronic) Linking ISSN: 02820080 NLM ISO Abbreviation: Glycoconj J Subsets: MEDLINE

مواضيع طبية MeSH: Neuraminidase*/chemistry , Mucolipidoses*/genetics , Mucolipidoses*/metabolism , Lysosomal Storage Diseases*, Animals ; Humans ; Mice ; Lysosomes/metabolism ; Mammals/metabolism

SCR Disease Name: Neuraminidase 1 deficiency; Neuraminidase deficiency with beta-galactosidase deficiency

المؤلفون: Chen YK; Department of Ophthalmology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan.; Department of Ophthalmology, College of Medicine, Chang Gung University, Taoyuan, Taiwan., Lai CH; Department of Ophthalmology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan.; Department of Ophthalmology, College of Medicine, Chang Gung University, Taoyuan, Taiwan., Chen NN; Department of Ophthalmology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan.; Department of Ophthalmology, College of Medicine, Chang Gung University, Taoyuan, Taiwan., Wu WC; Department of Ophthalmology, College of Medicine, Chang Gung University, Taoyuan, Taiwan.; Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; and., Ling XC; Department of Ophthalmology, College of Medicine, Chang Gung University, Taoyuan, Taiwan.; Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; and., Lai SC; Department of Neurology, West Garden Hospital, Taipei, Taiwan., Kao LY; Department of Ophthalmology, College of Medicine, Chang Gung University, Taoyuan, Taiwan.; Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; and., Chen CY; Department of Ophthalmology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan.; Department of Ophthalmology, College of Medicine, Chang Gung University, Taoyuan, Taiwan.

المصدر: Retina (Philadelphia, Pa.) [Retina] 2024 Feb 01; Vol. 44 (2), pp. e14-e15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8309919 Publication Model: Print Cited Medium: Internet ISSN: 1539-2864 (Electronic) Linking ISSN: 0275004X NLM ISO Abbreviation: Retina Subsets: MEDLINE

مواضيع طبية MeSH: Mucolipidoses* , Macula Lutea*, Humans ; Fovea Centralis