المؤلفون: Guffon N; Reference Centre for Inherited Metabolic Diseases (CERLYMM), Hospices Civils of Lyon (HCL), Lyon, France. Electronic address: nathalie.guffon-fouilhoux@chu-lyon.fr., Burton BK; Northwestern University and Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Ficicioglu C; Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital, Prague, Czech Republic., Gil-Campos M; Reina Sofía University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, Spanish Network for Research of Excellence in Obesity (CIBEROBN), Córdoba, Spain., Lopez-Rodriguez MA; Hospital Universitario Ramón Y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain., Jayakar P; Nicklaus Children's Hospital, Miami, FL, USA., Lund AM; Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Rigshospitalet, and Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Tal G; Metabolic Clinic and Pediatric Department 'B', Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Garcia-Ortiz JE; Division of Genetics, Centro de Investigación Biomédica de Occidente (CIBO) del Instituto Mexicano de Seguro Social (IMSS), Guadalajara, Mexico., Stepien KM; Adult Inherited Metabolic Diseases, Northern Care Alliance National Health Service (NHS) Foundation Trust, Salford Royal Organization, Salford, UK., Ellaway C; Sydney Children's Hospital Network, Sydney, Australia., Al-Hertani W; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Giugliani R; Federal University of Rio Grande do Sul (UFRGS), Hospital de Clinicas de Porto Alegre (HCPA), National Institute of Population Medical Genetics (INAGEMP), Diagnósticos da América S.A. (DASA) and Center for Comprehensive Care and Training in Rare Diseases (CASA DOS RAROS), Porto Alegre, Brazil., Cathey SS; Greenwood Genetic Center, Greenwood, SC, USA., Hennermann JB; Villa Metabolica, University Medical Center Mainz, Mainz, Germany., Lampe C; Center for Pediatric Neurology, Muscular Diseases and Social Pediatrics, Giessen University Hospital, Giessen, Germany., McNutt M; The University of Texas Southwestern Medical Center, Dallas, TX, USA., Lagler FB; Institute for Inherited Metabolic Diseases & Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria., Scarpa M; Regional Coordinating Center for Rare Diseases, University Hospital Udine, Italy., Sutton VR; Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA., Muschol N; International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: muschol@uke.de.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108519. Date of Electronic Publication: 2024 Jun 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Delphi Technique* , Consensus* , alpha-Mannosidosis*/therapy , alpha-Mannosidosis*/diagnosis, Humans ; Surveys and Questionnaires ; Delivery of Health Care, Integrated/standards

المؤلفون: Holla VV; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Gurram S; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Kamath SD; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Kamble N; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Yadav R; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India., Pal PK; Department of Neurology, National Institute of Mental health and Neurosciences, Bengaluru, India.

المصدر: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Aug; Vol. 11 Suppl 2, pp. S8-S10. Date of Electronic Publication: 2024 Jan 20.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

مواضيع طبية MeSH: Levodopa*/therapeutic use , Mutation, Missense* , Dystonic Disorders*/genetics , Dystonic Disorders*/drug therapy , alpha-Mannosidosis*/genetics , alpha-Mannosidosis*/drug therapy, Humans ; Male ; Dystonia/drug therapy ; Dystonia/genetics ; Female ; Homozygote

المؤلفون: Santoro L; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy. Electronic address: dott.luciasantoro@gmail.com., Cefalo G; Clinical Department of Pediatrics, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy. Electronic address: graziella.cefalo@asst-santipaolocarlo.it., Canalini F; Chiesi Italia SPA, Parma, Italy. Electronic address: f.canalini@chiesi.com., Rossi S; Chiesi Italia SPA, Parma, Italy. Electronic address: silvia.rossi14576@gmail.com., Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, P.le S. Maria della Misericordia 15, Udine 33100, Italy. Electronic address: maurizio.scarpa@asufc.sanita.fvg.it.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108444. Date of Electronic Publication: 2024 Mar 14.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Mannosidosis*/diagnosis , alpha-Mannosidosis*/genetics , Enzyme Replacement Therapy* , alpha-Mannosidase*/genetics , Delayed Diagnosis*, Humans ; Rare Diseases/diagnosis ; Rare Diseases/genetics

المؤلفون: Uguen K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Pensec M; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France., Benech C; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Schutz S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Zanlonghi X; Centre de compétence maladie rare, Service d'Ophtalmologie, CHU Rennes, Rennes, France., Nadjar Y; Département de Neurologie, Centre de Référence des Maladies Lysosomales, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France., Le Maréchal C; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Férec C; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Audebert-Bellanger S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63532. Date of Electronic Publication: 2024 Jan 08.

نوع المنشور: Case Reports

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: alpha-Mannosidosis*/diagnosis , alpha-Mannosidosis*/genetics, Humans ; DNA Copy Number Variations/genetics ; alpha-Mannosidase/genetics ; Mutation, Missense/genetics ; Phenotype

المؤلفون: Köse E; Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey. Electronic address: enginkose85@hotmail.com., Kasapkara ÇS; Ankara Yıldırım Beyazıt University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Turkey., İnci A; Gazi University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Sürücü Kara İ; Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey., Kahraman AB; Hacettepe University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Tümer L; Gazi University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Dursun A; Hacettepe University, Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey., Eminoğlu FT; Ankara University, Faculty of Medicine, Pediatric Metabolism, Ankara, Turkey; Ankara University Rare Diseases Application and Research Center, Ankara, Turkey.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104927. Date of Electronic Publication: 2024 Feb 19.

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Mannosidosis*/diagnosis , alpha-Mannosidosis*/genetics , alpha-Mannosidosis*/drug therapy , Intellectual Disability*/drug therapy , Hearing Loss*/genetics , Deafness*, Child ; Male ; Female ; Humans ; Enzyme Replacement Therapy

المؤلفون: Leong M; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Sathi B; Pediatric Hematology Oncology, Valley Children's Hospital, Madera, CA, USA., Davis A; Department of Pathology, Valley Children's Hospital, Madera, CA, USA., Hamid S; Department of Gastroenterology, Valley Children's Hospital, Madera, CA, USA., Wu S; Department of Pathology, Valley Children's Hospital, Madera, CA, USA., Woods J; Department of Pediatrics, Valley Children's Hospital, Madera, CA, USA.; Department of Pediatrics, Stanford University, Palo Alto, CA, USA., Kharbanda S; Department of Pediatric Bone Marrow Transplantation, UCSF Benioff Children's Hospitals, San Francisco, CA, USA., Li X; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Hou J; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

المصدر: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Nov 20; Vol. 36 (12), pp. 1186-1190. Date of Electronic Publication: 2023 Nov 20 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Mannosidosis*/diagnosis , alpha-Mannosidosis*/complications , alpha-Mannosidosis*/genetics , Celiac Disease*/complications , Lysosomal Storage Diseases*/diagnosis, Humans ; Infant ; Microscopy

المؤلفون: Bertolini A; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Rigoldi M; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Bergamo, Italy., Cianflone A; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Mariani R; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Piperno A; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Canonico F; Department of Radiology, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy., Cefalo G; Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Milan, Italy., Carubbi F; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE Hospital, AOU Modena, Modena, Italy., Simonati A; Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona School of Medicine, Verona, Italy., Urban ML; Department of Experimental and Clinical Medicine, University of Florence, Firenze, Italy., Beccari T; Department of Pharmaceutical Sciences; University of Perugia, Perugia, Italy., Parini R; Rare Diseases Unit, Department of Medicine and Surgery, San Gerardo Hospital IRCCS, University of Milano-Bicocca, Monza, Italy.

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2024 Jan 01; Vol. 33 (1), pp. 1-8. Date of Electronic Publication: 2023 Nov 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Mannosidosis*/diagnosis , Mental Disorders*, Male ; Female ; Humans ; Infant, Newborn ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Delayed Diagnosis ; Inheritance Patterns ; Italy/epidemiology

المؤلفون: Abdul Ghani S; Dow University of Health Sciences, Karachi., Burney S; Dow University of Health Sciences, Karachi., Ul Hussain H; Dow University of Health Sciences, Karachi., Abdul Wahid M; Dow University of Health Sciences, Karachi., Mumtaz H; Maroof International Hospital. Public Health Scholar, Health Services Academy, Islamabad, Pakistan.

المصدر: International journal of surgery (London, England) [Int J Surg] 2023 Sep 01; Vol. 109 (9), pp. 2882-2885. Date of Electronic Publication: 2023 Sep 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101228232 Publication Model: Electronic Cited Medium: Internet ISSN: 1743-9159 (Electronic) Linking ISSN: 17439159 NLM ISO Abbreviation: Int J Surg Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Mannosidosis*/therapy , alpha-Mannosidosis*/drug therapy, Child ; Humans ; alpha-Mannosidase/therapeutic use ; Bone Marrow Transplantation ; Cognition ; Enzyme Replacement Therapy

المؤلفون: Bullock G; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Johnson GS; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Pattridge SG; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Mhlanga-Mutangadura T; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Guo J; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Cook J; Specialists in Companion Animal Neurology, Clearwater, FL 33765, USA., Campbell RS; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Vite CH; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Katz ML; Neurodegenerative Diseases Research Laboratory, Department of Ophthalmology, School of Medicine, University of Missouri, Columbia, MO 65212, USA.

المصدر: Genes [Genes (Basel)] 2023 Aug 31; Vol. 14 (9). Date of Electronic Publication: 2023 Aug 31.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Mannosidosis*/genetics , alpha-Mannosidosis*/veterinary , Lysosomal Storage Diseases*/genetics , Lysosomal Storage Diseases*/veterinary, Animals ; Dogs ; alpha-Mannosidase/genetics ; Lysosomes ; Mutation, Missense ; Vacuoles ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/veterinary

المؤلفون: Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland. Electronic address: k.iwanicka-pronicka@ipczd.pl., Guzek A; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland., Sarnecki J; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland., Tylki-Szymańska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

المصدر: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2023 Jun; Vol. 169, pp. 111556. Date of Electronic Publication: 2023 Apr 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8464 (Electronic) Linking ISSN: 01655876 NLM ISO Abbreviation: Int J Pediatr Otorhinolaryngol Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Mannosidosis*/diagnostic imaging , alpha-Mannosidosis*/genetics , alpha-Mannosidosis*/pathology , Hearing Loss*/diagnostic imaging , Hearing Loss*/genetics , Hearing Loss, Sensorineural*, Male ; Female ; Humans ; Poland ; alpha-Mannosidase/chemistry ; alpha-Mannosidase/genetics ; Audiometry