المؤلفون: Schoser B; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Beek NAME; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Broomfield A; Metabolic Department, Great Ormond Street Hospital, London, UK., Brusse E; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Diaz-Manera J; John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK., Hahn A; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen, Germany., Hundsberger T; Department of Neurology, Cantonal Hospital St Gallen, St Gallen, Switzerland., Kornblum C; Neuromuscular Diseases Section, Department of Neurology, University Hospital Bonn, Bonn, Germany., Kruijshaar M; Center for Lysosomal and Metabolic Diseases Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Laforet P; Neurology Department, Raymond Poincaré Hospital, Nord-Est-Ile-de-France Neuromuscular Reference Center, Garches, APHP, Paris, France.; FHU PHENIX, Université Versailles Saint Quentin en Yvelines, Paris-Saclay University, Paris, France., Mengel E; Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany., Mongini T; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, Torino, Italy., Orlikowski D; Clinical Investigation Center 1429 APHP/INSERM, UMR 1179, Hôpital Raymond Poincaré, Université de Versailles Saint Quentin/Paris Saclay, FHU PHENIX, Paris, France., Parenti G; Department of Translational Medicine, Federico II University, Naples, Italy., Pijnappel WWMP; Department of Clinical Genetics, Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Roberts M; Manchester Centre for Clinical Neurosciences, Manchester, UK., Scherer T; Division of Endocrinology, Innere III, Medical University of Vienna, Vienna, Austria., Toscano A; ERN-NMD Center of Messina for Rare Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., van den Hout JMP; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van Doorn PA; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Wenninger S; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

المصدر: European journal of neurology [Eur J Neurol] 2024 Sep; Vol. 31 (9), pp. e16383. Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Journal Article; Practice Guideline

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II*/drug therapy , Enzyme Replacement Therapy*/methods, Humans ; Europe

المؤلفون: Høj A; Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Copenhagen, Denmark; Copenhagen Neuromuscular Center Department 8077, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. Electronic address: astrid.hoej@regionh.dk., Ørngreen MC; Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Copenhagen, Denmark., Naume MM; Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Copenhagen, Denmark., Lund AM; Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Copenhagen, Denmark.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108515. Date of Electronic Publication: 2024 Jun 13.

نوع المنشور: Journal Article; Case Reports

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: Gaucher Disease*/therapy , Gaucher Disease*/genetics , Gaucher Disease*/drug therapy , Hematopoietic Stem Cell Transplantation* , Enzyme Replacement Therapy* , Glucosylceramidase*/genetics , Glucosylceramidase*/therapeutic use, Humans ; Male ; Female ; Retrospective Studies ; Child ; Treatment Outcome ; Siblings ; Adolescent ; Hexosaminidases/genetics ; Child, Preschool

المؤلفون: Shima H; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan. h.shima@khg.or.jp., Tsukimura T; Department of Functional Bioanalysis, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Shiga T; Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Togawa T; Department of Functional Bioanalysis, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Sakuraba H; Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Doi T; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Ikeda Y; Department of Laboratory, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Okamoto T; Department of Laboratory, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Yoshikawa Y; Department of Laboratory, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Kimura T; Department of Cardiovascular Medicine, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Iwase T; Department of Cardiovascular Medicine, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Inoue T; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Tashiro M; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Okada K; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Minakuchi J; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan.

المصدر: CEN case reports [CEN Case Rep] 2024 Aug; Vol. 13 (4), pp. 290-296. Date of Electronic Publication: 2023 Dec 22.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 101636244 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2192-4449 (Electronic) Linking ISSN: 21924449 NLM ISO Abbreviation: CEN Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Fabry Disease*/drug therapy , Fabry Disease*/diagnosis , alpha-Galactosidase*/therapeutic use , alpha-Galactosidase*/administration & dosage , alpha-Galactosidase*/immunology , Biomarkers*/blood , Enzyme Replacement Therapy*/methods , Isoenzymes*/therapeutic use , Isoenzymes*/administration & dosage , Antibodies, Neutralizing*/blood , Trihexosylceramides*/urine , Sphingolipids*/blood, Humans ; Male ; Adult ; Glycolipids ; Kidney/pathology ; Severity of Illness Index ; Treatment Outcome ; Recombinant Proteins

المؤلفون: Schuh RS; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address: roselena.schuh@ufrgs.br., Franceschi EP; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Brum BB; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Fachel FNS; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Poletto É; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Vera LNP; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Santos HS; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Medeiros-Neves B; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Monteagudo de Barros V; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Helena da Rosa Paz A; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Baldo G; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil., Matte U; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil., Giugliani R; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil., Ferreira Teixeira H; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil.

المصدر: International journal of pharmaceutics [Int J Pharm] 2024 Jul 20; Vol. 660, pp. 124355. Date of Electronic Publication: 2024 Jun 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 7804127 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3476 (Electronic) Linking ISSN: 03785173 NLM ISO Abbreviation: Int J Pharm Subsets: MEDLINE

مواضيع طبية MeSH: Liposomes* , Iduronidase*/administration & dosage , Mucopolysaccharidosis I*/drug therapy , Administration, Intranasal* , Brain*/metabolism , Brain*/drug effects , Enzyme Replacement Therapy*/methods, Animals ; Mice ; Tissue Distribution ; Fibroblasts/drug effects ; Male ; Mice, Inbred C57BL

المؤلفون: Castellar-Leones SM; Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No. 45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia. smcastellarl@unal.edu.co.; Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia. smcastellarl@unal.edu.co.; Hospital Universitario Nacional de Colombia, Bogotá, Colombia. smcastellarl@unal.edu.co., Ortiz-Corredor F; Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No. 45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia.; Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia.; Hospital Universitario Nacional de Colombia, Bogotá, Colombia.; Instituto Roosevelt, Bogotá, Colombia., Manrique-Hernández D; Universidad de la Sabana, Chía, Colombia., Sánchez-Peñarete D; Hospital Universitario San Ignacio, Bogotá, Colombia., Ruiz-Ospina E; Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No. 45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia.; Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia., Soto-Peña D; Instituto Roosevelt, Bogotá, Colombia., Correa-Arrieta C; Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia.; Instituto Roosevelt, Bogotá, Colombia.

المصدر: Journal of medical case reports [J Med Case Rep] 2024 Jul 18; Vol. 18 (1), pp. 328. Date of Electronic Publication: 2024 Jul 18.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II*/drug therapy , Enzyme Replacement Therapy* , alpha-Glucosidases*/therapeutic use , Methotrexate*/therapeutic use, Humans ; Female ; Infant ; Child ; Treatment Outcome ; Immunotherapy/methods ; Immunoglobulin G ; Recombinant Proteins/therapeutic use

المؤلفون: Dubiela P; Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-089 Bialystok, Poland.; Department of Pathophysiology and Allergy Research, Medical University of Vienna, 1090 Vienna, Austria., Szymanska-Rozek P; Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, 00-927 Warsaw, Poland., Hasinski P; Department of Internal Medicine and Gastroenterology, Municipal Hospital, 43-100 Tychy, Poland., Lipinski P; Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, 00-136 Warsaw, Poland., Kleinotiene G; Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania., Giersz D; Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-089 Bialystok, Poland., Tylki-Szymanska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-736 Warsaw, Poland.

المصدر: Biomolecules [Biomolecules] 2024 Jul 12; Vol. 14 (7). Date of Electronic Publication: 2024 Jul 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

مواضيع طبية MeSH: Gaucher Disease*/drug therapy , Enzyme Replacement Therapy* , Glucosylceramidase*/genetics , Glucosylceramidase*/therapeutic use, Humans ; Male ; Female ; Adult ; Middle Aged ; Adolescent ; Young Adult ; Biomarkers/blood ; Child ; Psychosine/metabolism ; Psychosine/analogs & derivatives ; Aged ; Child, Preschool

المؤلفون: Rivelli A; Advocate Aurora Health, Downers Grove, IL, USA.; Advocate Aurora Research Institute, Downers Grove, IL, USA., Vora JB; AbbVie Inc., North Chicago, IL, USA., Diaz D; AbbVie Inc., North Chicago, IL, USA., Fitzpatrick V; Advocate Aurora Health, Downers Grove, IL, USA.; Advocate Aurora Research Institute, Downers Grove, IL, USA.

المصدر: The Journal of international medical research [J Int Med Res] 2024 Jul; Vol. 52 (7), pp. 3000605241261332.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print Cited Medium: Internet ISSN: 1473-2300 (Electronic) Linking ISSN: 03000605 NLM ISO Abbreviation: J Int Med Res Subsets: MEDLINE

مواضيع طبية MeSH: Pancreatitis, Chronic*/therapy , Pancreatitis, Chronic*/economics , Enzyme Replacement Therapy*/economics, Humans ; Male ; Female ; Retrospective Studies ; Middle Aged ; Adult ; Patient Acceptance of Health Care/statistics & numerical data ; United States ; Health Resources/statistics & numerical data ; Health Resources/economics ; Hospitalization/statistics & numerical data ; Hospitalization/economics ; Aged ; Pancreas/pathology ; Delivery of Health Care/economics ; Delivery of Health Care/statistics & numerical data ; Young Adult

المؤلفون: Ramsey ML; Division of Gastroenterology, Hepatology, and Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Galante GJ; Section of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.

المصدر: Pediatric pulmonology [Pediatr Pulmonol] 2024 Sep; Vol. 59 Suppl 1, pp. S44-S52.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

مواضيع طبية MeSH: Exocrine Pancreatic Insufficiency*/drug therapy , Exocrine Pancreatic Insufficiency*/diagnosis , Exocrine Pancreatic Insufficiency*/etiology , Cystic Fibrosis*/complications , Cystic Fibrosis*/physiopathology , Cystic Fibrosis*/drug therapy , Enzyme Replacement Therapy*, Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Pancreatitis/physiopathology ; Pancreatitis/drug therapy ; Pancreatitis/diagnosis

المؤلفون: Spaull R; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Soo AK; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Batzios S; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Footitt E; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Whiteley R; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Mink JW; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Carr L; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Gissen P; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Kurian MA; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

المصدر: Neurology [Neurology] 2024 Aug 13; Vol. 103 (3), pp. e209615. Date of Electronic Publication: 2024 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Neuronal Ceroid-Lipofuscinoses*/drug therapy , Neuronal Ceroid-Lipofuscinoses*/genetics , Neuronal Ceroid-Lipofuscinoses*/complications , Enzyme Replacement Therapy*/methods , Movement Disorders*/drug therapy , Movement Disorders*/genetics, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Disease Progression ; Cohort Studies ; Myoclonus/drug therapy ; Myoclonus/genetics ; Treatment Outcome ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases ; Recombinant Proteins

SCR Disease Name: Ceroid Lipofuscinosis, Neuronal, 2

المؤلفون: Klassen PN; Department of Agricultural, Food and Nutritional Sciences, University of Alberta, Edmonton, AB, T6G 1Z2, Canada., Mazurak VC; Department of Agricultural, Food and Nutritional Sciences, University of Alberta, Edmonton, AB, T6G 1Z2, Canada., Baracos V; Department of Oncology, University of Alberta, Edmonton, AB, T6G 1Z2, Canada., Martin L; Alberta Health Services, 10030 107 St NW, Edmonton, AB, T5J 3E4, Canada., Ghosh S; Department of Oncology, University of Alberta, Edmonton, AB, T6G 1Z2, Canada; Department of Public Health Sciences, Henry Ford Hospital, Detroit, 48202, USA., Kasnik J; Nutrition Services, Cross Cancer Institute, Edmonton, AB, T6G 1Z2, Canada., Sawyer MB; Department of Oncology, University of Alberta, Edmonton, AB, T6G 1Z2, Canada. Electronic address: michael.sawyer@albertahealthservices.ca.

المصدر: Clinical nutrition (Edinburgh, Scotland) [Clin Nutr] 2024 Aug; Vol. 43 (8), pp. 1900-1906. Date of Electronic Publication: 2024 Jul 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 8309603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1983 (Electronic) Linking ISSN: 02615614 NLM ISO Abbreviation: Clin Nutr Subsets: MEDLINE

مواضيع طبية MeSH: Enzyme Replacement Therapy*/methods , Exocrine Pancreatic Insufficiency*/drug therapy , Exocrine Pancreatic Insufficiency*/etiology , Pancreatic Neoplasms*/complications , Pancreatic Neoplasms*/drug therapy, Humans ; Male ; Female ; Middle Aged ; Aged ; Sarcopenia/drug therapy ; Sarcopenia/etiology ; Alberta ; Muscle, Skeletal/drug effects ; Antineoplastic Agents/administration & dosage ; Antineoplastic Agents/adverse effects ; Tomography, X-Ray Computed ; Dose-Response Relationship, Drug