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Academic Journal

Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C.

  • Authors : Cooper JA; Willink Biochemical Genetics Laboratory, Manchester University NHS Foundation Trust, United Kingdom.; Church HJ

Subjects: Cholestanols/Cholestanols/Cholestanols/*blood ; Niemann-Pick Disease, Type C/Niemann-Pick Disease, Type C/Niemann-Pick Disease, Type C/*diagnosis ; Wolman Disease/Wolman Disease/Wolman Disease/*diagnosis

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2020 May; Vol. 130 (1), pp. 77-86. Date of Electronic Publication: 2020 Mar 05.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group.

  • Authors : Kohli R; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital Los Angeles, Los Angeles, California, USA.; Ratziu V

Subjects: Practice Guidelines as Topic*; Wolman Disease/Wolman Disease/Wolman Disease/*complications ; Wolman Disease/Wolman Disease/Wolman Disease/*genetics

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2020 Feb; Vol. 129 (2), pp. 59-66. Date of Electronic Publication: 2019 Nov 18.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease.

  • Authors : Dairaku T; Advanced Clinical Research Center, Southern TOHOKU Research Institute for Neuroscience, Fukushima, Japan.; Iwamoto T

Subjects: Cholesterol Ester Storage Disease/Cholesterol Ester Storage Disease/Cholesterol Ester Storage Disease/*blood ; Dried Blood Spot Testing/Dried Blood Spot Testing/Dried Blood Spot Testing/*methods ; Fluorometry/Fluorometry/Fluorometry/*methods

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2014 Feb; Vol. 111 (2), pp. 193-6. Date of Electronic Publication: 2013 Nov 16.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

  • Authors : Bychkov IO; Federal State Budgetary Institution «Research Centre for Medical Genetics», Moscow, Russia. Electronic address: .; Kamenets EA

Subjects: Genetic Variation* ; Mutation* ; RNA Splicing*

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2019 Jul; Vol. 127 (3), pp. 212-215. Date of Electronic Publication: 2019 Jun 15.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications.

  • Authors : Yanir A; Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah University Hospital, Jerusalem, Israel. ; Allatif MA

Subjects: Hematopoietic Stem Cell Transplantation/Hematopoietic Stem Cell Transplantation/Hematopoietic Stem Cell Transplantation/*adverse effects ; Liver Diseases/Liver Diseases/Liver Diseases/*diagnosis ; Wolman Disease/Wolman Disease/Wolman Disease/*therapy

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2013 Jun; Vol. 109 (2), pp. 224-6. Date of Electronic Publication: 2013 Mar 20.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients.

  • Authors : Bernstein DL; GenoPheno, LLC, New York, NY, United States; Mount Sinai Hospital and Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.

Subjects: Liver Transplantation*; Graft Rejection/Graft Rejection/Graft Rejection/*physiopathology ; Liver/Liver/Liver/*pathology

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2018 May; Vol. 124 (1), pp. 11-19. Date of Electronic Publication: 2018 Mar 27.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Structural bases of Wolman disease and cholesteryl ester storage disease.

  • Authors : Saito S; Department of Medical Management and Informatics, Hokkaido Information University, Ebetsu, Hokkaido, Japan.; Ohno K

Subjects: Models, Molecular* ; Mutation*; Cholesterol Ester Storage Disease/Cholesterol Ester Storage Disease/Cholesterol Ester Storage Disease/*genetics

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2012 Feb; Vol. 105 (2), pp. 244-8. Date of Electronic Publication: 2011 Nov 20.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Lysosomal acid lipase deficiency: Expanding differential diagnosis.

  • Authors : Valayannopoulos V; Hôpital Necker, Enfants Malades, Paris, France; Sanofi Genzyme Corporation, Cambridge, MA, USA. Electronic address: .

Subjects: Sterol Esterase/Sterol Esterase/Sterol Esterase/*metabolism ; Sterol Esterase/Sterol Esterase/Sterol Esterase/*therapeutic use ; Wolman Disease/Wolman Disease/Wolman Disease/*diagnosis

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2017 Jan - Feb; Vol. 120 (1-2), pp. 62-66. Date of Electronic Publication: 2016 Nov 10.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Intragenic deletion as a novel type of mutation in Wolman disease.

  • Authors : Lee TM; Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA.; Welsh M

Subjects: Sequence Deletion*; Sterol Esterase/Sterol Esterase/Sterol Esterase/*genetics ; Wolman Disease/Wolman Disease/Wolman Disease/*diagnosis

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2011 Dec; Vol. 104 (4), pp. 703-5. Date of Electronic Publication: 2011 Sep 14.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease.

  • Authors : Sun Y; The Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, USA; The Department of Pediatrics, University of Cincinnati College of Medicine Cincinnati, OH 45229, USA. Electronic address: .

Subjects: Wolman Disease/Wolman Disease/Wolman Disease/*metabolism ; Wolman Disease/Wolman Disease/Wolman Disease/*pathology; Animals

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2014 Jul; Vol. 112 (3), pp. 229-41. Date of Electronic Publication: 2014 May 04.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  19 results for ""Wolman Disease""