Autor: "Vellodi, A." - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease.
Autorzy:: Donald A; Manchester Centre for Genomic Medicine, St Marys Hospital, Manchester, UK. .
Björkvall CK; Department of Medicine, Sunderby Regional Hospital of Norrbotten County, Luleå, Sweden.
Vellodi A; Great Ormond Street Hospital, London, UK.
Cox TM; Department of Medicine, University of Cambridge, Cambridge, UK.
Hughes D; Lysosomal Storage Disorder Unit, Royal Free Hospital, UCL, London, UK.
Jones SA; Manchester Centre for Genomic Medicine, St Marys Hospital, Manchester, UK.
Wynn R; Royal Manchester Children's Hospital, Manchester, UK.
Machaczka M; Department of Human Pathophysiology, Institute of Medical Sciences, University of Rzeszow, Rzeszow, Poland.; Division of Internal Medicine, Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.; Pokaż więcej
Corporate Authors:: GAUCHERITE Consortium
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jun 18; Vol. 17 (1), pp. 234. Date of Electronic Publication: 2022 Jun 18.
Typ publikacji:: Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:: Gaucher Disease*/drug therapy
Hematopoietic Stem Cell Transplantation*
Nervous System Diseases*
Enzyme Replacement Therapy/methods ; Glucosylceramidase/therapeutic use ; Humans ; Retrospective Studies

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Skocz do pozycji: 2.

Tytuł:: Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
Autorzy:: de Ru MH; Department of Pediatrics and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Boelens JJ
Das AM
Jones SA
van der Lee JH
Mahlaoui N
Mengel E
Offringa M
O'Meara A
Parini R
Rovelli A
Sykora KW
Valayannopoulos V
Vellodi A
Wynn RF
Wijburg FA; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2011 Aug 10; Vol. 6, pp. 55. Date of Electronic Publication: 2011 Aug 10.
Typ publikacji:: Consensus Development Conference; Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't
MeSH Terms:: Enzyme Replacement Therapy/*methods
Hematopoietic Stem Cell Transplantation/*methods
Mucopolysaccharidosis I/*therapy
Child, Preschool ; Combined Modality Therapy ; Europe ; Humans ; Iduronidase/administration & dosage ; Iduronidase/therapeutic use ; Infant ; Treatment Outcome

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Skocz do pozycji: 3.

Tytuł:: Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders.
Autorzy:: Fowler DJ; Department of Histopathology, Great Ormond Street Hospital, London, UK.
Anderson G
Vellodi A
Malone M
Sebire NJ; Pokaż więcej
Źródło:: Ultrastructural pathology [Ultrastruct Pathol] 2007 Jan-Feb; Vol. 31 (1), pp. 15-21.
Typ publikacji:: Journal Article
MeSH Terms:: Microscopy, Electron*
Chorionic Villi/*ultrastructure
Chorionic Villi Sampling/*methods
Fetal Diseases/*diagnosis
Lysosomal Storage Diseases/*diagnosis
Female ; Fetal Diseases/pathology ; Humans ; Lysosomal Storage Diseases/pathology ; Medical Records ; Pregnancy

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Skocz do pozycji: 4.

Tytuł:: Ultrastructural features of gaucher disease treated with enzyme replacement therapy presenting as mesenteric mass lesions.
Autorzy:: Fowler DJ; Department of Paediatric Pathology, Great Ormond Street Hospital for Children, London, United Kingdom.
Weber MA
Anderson G
Malone M
Sebire NJ
Vellodi A; Pokaż więcej
Źródło:: Fetal and pediatric pathology [Fetal Pediatr Pathol] 2006 Sep-Oct; Vol. 25 (5), pp. 241-8.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Gaucher Disease/*drug therapy
Gaucher Disease/*pathology
Glucosylceramidase/*therapeutic use
Inclusion Bodies/*ultrastructure
Lymphatic Diseases/*etiology
Biopsy, Fine-Needle ; Child ; Child, Preschool ; Female ; Glucosylceramidase/deficiency ; Humans ; Microscopy, Electron, Transmission

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Skocz do pozycji: 5.

Tytuł:: Temporomandibular joint destruction in mucolipidosis type III necessitating gastrostomy insertion.
Autorzy:: Zolkipli Z; Metabolic Unit, Great Ormond Street Hospital, London, UK.
Noimark L
Cleary MA
Owens C
Vellodi A; Pokaż więcej
Źródło:: European journal of pediatrics [Eur J Pediatr] 2005 Dec; Vol. 164 (12), pp. 772-4. Date of Electronic Publication: 2005 Jul 22.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Mucolipidoses/*complications
Temporomandibular Joint Disorders/*etiology
Adolescent ; Female ; Gastrostomy ; Humans ; Temporomandibular Joint Disorders/physiopathology

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Skocz do pozycji: 6.

Tytuł:: Is globotriaosylceramide a useful biomarker in Fabry disease?
Autorzy:: Young E; Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, London, UK. />Mills K
Morris P
Vellodi A
Lee P
Waldek S
Winchester B; Pokaż więcej
Źródło:: Acta paediatrica (Oslo, Norway : 1992). Supplement [Acta Paediatr Suppl] 2005 Mar; Vol. 94 (447), pp. 51-4; discussion 37-8.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Fabry Disease/*blood
Fabry Disease/*urine
Trihexosylceramides/*blood
Trihexosylceramides/*urine
Biomarkers ; Chromosomes, Human, X/genetics ; Fabry Disease/drug therapy ; Female ; Glycolipids/metabolism ; Heterozygote ; Homozygote ; Humans ; Male ; Mass Spectrometry ; Point Mutation/genetics ; alpha-Galactosidase/therapeutic use

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Skocz do pozycji: 7.

Tytuł:: Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease.
Autorzy:: Mills K; Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, WC1N 1EH London, UK.
Vellodi A
Morris P
Cooper D
Morris M
Young E
Winchester B; Pokaż więcej
Źródło:: European journal of pediatrics [Eur J Pediatr] 2004 Oct; Vol. 163 (10), pp. 595-603.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Fabry Disease/*drug therapy
Isoenzymes/*therapeutic use
Trihexosylceramides/*metabolism
alpha-Galactosidase/*therapeutic use
Chromatography, Gas ; Fabry Disease/enzymology ; Humans ; Male ; Monitoring, Physiologic ; Mutation ; Spectrometry, Mass, Electrospray Ionization ; Treatment Outcome ; Trihexosylceramides/blood ; Trihexosylceramides/urine ; alpha-Galactosidase/genetics

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Skocz do pozycji: 8.

Tytuł:: Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
Autorzy:: Grabowski GA; Division and Program in Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA. />Andria G
Baldellou A
Campbell PE
Charrow J
Cohen IJ
Harris CM
Kaplan P
Mengel E
Pocovi M
Vellodi A; Pokaż więcej
Źródło:: European journal of pediatrics [Eur J Pediatr] 2004 Feb; Vol. 163 (2), pp. 58-66. Date of Electronic Publication: 2003 Dec 16.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:: Gaucher Disease*/classification
Gaucher Disease*/diagnosis
Gaucher Disease*/physiopathology
Adolescent ; Adult ; Age Factors ; Aged ; Child ; Child, Preschool ; Consensus ; Genotype ; Humans ; Infant ; Middle Aged ; Quality of Life

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Skocz do pozycji: 9.

Tytuł:: Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.
Autorzy:: Baldellou A; Unidad de Enfermedades Metabólicas, Hospital Infantil Miguel Servet, Po. Isabel la Católica, 350009 Zaragoza, Spain. />Andria G
Campbell PE
Charrow J
Cohen IJ
Grabowski GA
Harris CM
Kaplan P
McHugh K
Mengel E
Vellodi A; Pokaż więcej
Źródło:: European journal of pediatrics [Eur J Pediatr] 2004 Feb; Vol. 163 (2), pp. 67-75. Date of Electronic Publication: 2003 Dec 16.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:: Enzyme Therapy*
Quality of Life*
Gaucher Disease/*drug therapy
Bone Density ; Child, Preschool ; Enzymes/blood ; Gaucher Disease/complications ; Gaucher Disease/physiopathology ; Humans

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Skocz do pozycji: 10.

Tytuł:: Class- and subclass-specific pneumococcal antibody levels and response to immunization after bone marrow transplantation.
Autorzy:: Lortan JE; Department of Immunology, Westminster Hospital, London, UK.
Vellodi A
Jurges ES
Hugh-Jones K; Pokaż więcej
Źródło:: Clinical and experimental immunology [Clin Exp Immunol] 1992 Jun; Vol. 88 (3), pp. 512-9.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Streptococcus pneumoniae*
Antibodies, Bacterial/*blood
Bone Marrow Transplantation/*immunology
Adolescent ; Adult ; Age Factors ; Bacterial Vaccines/immunology ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Graft vs Host Disease/immunology ; Humans ; Immunoglobulin A/analysis ; Immunoglobulin G/analysis ; Immunoglobulin M/analysis ; Male ; Spleen/immunology

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