Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313388517> ?p ?o ?g. }
- W4313388517 abstract "Abstract Background: Acid sphingomyelinase deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There is no published national or international guideline for diagnosis and management of patients with ASMD. For these reasons, we at INPDR have developed a clinical guideline that define standard of care for ASMD patients Methods: The information contained in these guidelines was obtained through a systematic review of the literature and the experiences of the authors in their care of patients with ASMD. We adopted the Appraisal of Guidelines for Research & Evaluation (AGREE II) system as method of choice for the guideline development process. Results: The clinical spectrum of ASMD, although a continuum, varies substantially with subtypes ranging from a fatal infantile neurovisceral disorder to an adult-onset chronic visceral disease. We made 39 conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. In addition, this guideline has identified gaps in the knowledge that must be filled by future research. Conclusion: This guideline can inform care providers, care funders, patients and their carers about best clinical practice and lead to a step change in the quality of care for patients with ASMD." @default.
- W4313388517 created "2023-01-06" @default.
- W4313388517 creator A5000436427 @default.
- W4313388517 creator A5006417558 @default.
- W4313388517 creator A5014624693 @default.
- W4313388517 creator A5016091950 @default.
- W4313388517 creator A5018875125 @default.
- W4313388517 creator A5019712693 @default.
- W4313388517 creator A5021739803 @default.
- W4313388517 creator A5024669037 @default.
- W4313388517 creator A5026325788 @default.
- W4313388517 creator A5027057921 @default.
- W4313388517 creator A5028642199 @default.
- W4313388517 creator A5034341624 @default.
- W4313388517 creator A5038501331 @default.
- W4313388517 creator A5042633389 @default.
- W4313388517 creator A5048612975 @default.
- W4313388517 creator A5052930244 @default.
- W4313388517 creator A5053506207 @default.
- W4313388517 creator A5066244429 @default.
- W4313388517 creator A5067270123 @default.
- W4313388517 creator A5088366848 @default.
- W4313388517 creator A5089005273 @default.
- W4313388517 creator A5089564343 @default.
- W4313388517 date "2022-12-19" @default.
- W4313388517 modified "2023-10-18" @default.
- W4313388517 title "Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B)" @default.
- W4313388517 cites W12987494 @default.
- W4313388517 cites W1550942324 @default.
- W4313388517 cites W1558944349 @default.
- W4313388517 cites W1867283789 @default.
- W4313388517 cites W1960122038 @default.
- W4313388517 cites W1967917811 @default.
- W4313388517 cites W1968842554 @default.
- W4313388517 cites W1972847109 @default.
- W4313388517 cites W1978732083 @default.
- W4313388517 cites W1979416520 @default.
- W4313388517 cites W1980723388 @default.
- W4313388517 cites W198273110 @default.
- W4313388517 cites W1983009765 @default.
- W4313388517 cites W1990137805 @default.
- W4313388517 cites W1994435180 @default.
- W4313388517 cites W1996878434 @default.
- W4313388517 cites W2000915110 @default.
- W4313388517 cites W2003041960 @default.
- W4313388517 cites W2007538035 @default.
- W4313388517 cites W2008245244 @default.
- W4313388517 cites W2012978753 @default.
- W4313388517 cites W2013549544 @default.
- W4313388517 cites W2018271502 @default.
- W4313388517 cites W2020620545 @default.
- W4313388517 cites W2021965973 @default.
- W4313388517 cites W2023584708 @default.
- W4313388517 cites W2023625342 @default.
- W4313388517 cites W2025782555 @default.
- W4313388517 cites W2028216720 @default.
- W4313388517 cites W2029657851 @default.
- W4313388517 cites W2032183398 @default.
- W4313388517 cites W2034512254 @default.
- W4313388517 cites W2037628996 @default.
- W4313388517 cites W2038720373 @default.
- W4313388517 cites W2039293280 @default.
- W4313388517 cites W2043470750 @default.
- W4313388517 cites W2051978340 @default.
- W4313388517 cites W2054159532 @default.
- W4313388517 cites W2056344898 @default.
- W4313388517 cites W2057794355 @default.
- W4313388517 cites W2064137116 @default.
- W4313388517 cites W2067885092 @default.
- W4313388517 cites W2073394326 @default.
- W4313388517 cites W2076355000 @default.
- W4313388517 cites W2081102700 @default.
- W4313388517 cites W2082064117 @default.
- W4313388517 cites W2083139822 @default.
- W4313388517 cites W2084448628 @default.
- W4313388517 cites W2092592677 @default.
- W4313388517 cites W2115291651 @default.
- W4313388517 cites W2116036970 @default.
- W4313388517 cites W2120034344 @default.
- W4313388517 cites W2144456776 @default.
- W4313388517 cites W2154496845 @default.
- W4313388517 cites W2160121481 @default.
- W4313388517 cites W2176464477 @default.
- W4313388517 cites W2271229613 @default.
- W4313388517 cites W2358339915 @default.
- W4313388517 cites W2408400092 @default.
- W4313388517 cites W2410489761 @default.
- W4313388517 cites W2415753443 @default.
- W4313388517 cites W2461231283 @default.
- W4313388517 cites W2470625088 @default.
- W4313388517 cites W2472237366 @default.
- W4313388517 cites W2549430609 @default.
- W4313388517 cites W2605988729 @default.
- W4313388517 cites W2770026599 @default.
- W4313388517 cites W2777620129 @default.
- W4313388517 cites W2781992688 @default.
- W4313388517 cites W2792073976 @default.
- W4313388517 cites W2875398804 @default.
- W4313388517 cites W2886876804 @default.
- W4313388517 cites W2888014362 @default.