-
4
-
-
85032857708
-
-
[webpage on the Internet], Accessed August 23, 2016
-
United States Food and Drug Administration Department of Health and Human Services [webpage on the Internet]. 21CFR316.20 - Content and Format of a Request for Orphan-Drug Designation; 2015. Available from: http://www.ecfr.gov/cgi-bin/text-idx?SID=ad1729044e3018c44badef3eb3824efe&mc=true&node=se21.5.316_120&rgn=div8. Accessed August 23, 2016.
-
(2015)
21CFR316.20 - Content and Format of a Request for Orphan-Drug Designation
-
-
-
6
-
-
80052809739
-
Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis
-
Harknett EC, Chang WY, Byrnes S, et al. Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis. QJM. 2011;104(11):971-979.
-
(2011)
QJM
, vol.104
, Issue.11
, pp. 971-979
-
-
Harknett, E.C.1
Chang, W.Y.2
Byrnes, S.3
-
7
-
-
85017330959
-
A systematic review of the prevalence of Morquio A syndrome: Challenges for study reporting in rare diseases
-
Leadley RM, Lang S, Misso K, et al. A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases. Orphanet J Rare Dis. 2014;9:173.
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 173
-
-
Leadley, R.M.1
Lang, S.2
Misso, K.3
-
8
-
-
84877602774
-
Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: A twelveyear single center experience
-
Hallal C, Kieling CO, Nunes DL, et al. Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelveyear single center experience. Pediatr Surg Int. 2012;28(12):1211-1217.
-
(2012)
Pediatr Surg Int
, vol.28
, Issue.12
, pp. 1211-1217
-
-
Hallal, C.1
Kieling, C.O.2
Nunes, D.L.3
-
9
-
-
84885977479
-
Novel forms of lipodystrophy: Why should we care?
-
Rother KI, Brown RJ. Novel forms of lipodystrophy: why should we care? Diabetes Care. 2013;36(8):2142-2145.
-
(2013)
Diabetes Care
, vol.36
, Issue.8
, pp. 2142-2145
-
-
Rother, K.I.1
Brown, R.J.2
-
10
-
-
84931750184
-
Geographic variations in epidemiology of two autoimmune bullous diseases: Pemphigus and bullous pemphigoid
-
Alpsoy E, Akman-Karakas A, Uzun S. Geographic variations in epidemiology of two autoimmune bullous diseases: pemphigus and bullous pemphigoid. Arch Dermatol Res. 2015;307(4):291-298.
-
(2015)
Arch Dermatol Res
, vol.307
, Issue.4
, pp. 291-298
-
-
Alpsoy, E.1
Akman-Karakas, A.2
Uzun, S.3
-
11
-
-
84906716305
-
Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
-
Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014;35(32):2146-2157.
-
(2014)
Eur Heart J
, vol.35
, Issue.32
, pp. 2146-2157
-
-
Cuchel, M.1
Bruckert, E.2
Ginsberg, H.N.3
-
12
-
-
85003601739
-
The diagnosis and management of lipodystrophy syndromes: A multi-society practice guideline
-
Brown RJ, Araujo-Vilar D, Cheung PT, et al. The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. J Clin Endocrinol Metab. 2016;101(12):4500-4511.
-
(2016)
J Clin Endocrinol Metab
, vol.101
, Issue.12
, pp. 4500-4511
-
-
Brown, R.J.1
Araujo-Vilar, D.2
Cheung, P.T.3
-
13
-
-
80655145234
-
Clinical review: Lipodystrophies: Genetic and acquired body fat disorders
-
Garg A. Clinical review: lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011;96(11):3313-3325.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, Issue.11
, pp. 3313-3325
-
-
Garg, A.1
-
14
-
-
1542642958
-
Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: Report of 35 cases and review of the literature
-
Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine. 2004;83(1):18-34.
-
(2004)
Medicine
, vol.83
, Issue.1
, pp. 18-34
-
-
Misra, A.1
Peethambaram, A.2
Garg, A.3
-
15
-
-
0033964872
-
-
Garg A. Lipodystrophies. Am J Med. 2000;108(2):143-152.
-
(2000)
Am J Med
, vol.108
, Issue.2
, pp. 143-152
-
-
Garg, A.1
-
16
-
-
0037339129
-
Clinical features and metabolic derangements in acquired generalized lipodystrophy: Case reports and review of the literature
-
Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. Medicine (Baltimore). 2003;82(2):129-146.
-
(2003)
Medicine (Baltimore)
, vol.82
, Issue.2
, pp. 129-146
-
-
Misra, A.1
Garg, A.2
-
17
-
-
0032959251
-
Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
-
Garg A, Peshock RM, Fleckenstein JL. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 1999;84(1):170-174.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, Issue.1
, pp. 170-174
-
-
Garg, A.1
Peshock, R.M.2
Fleckenstein, J.L.3
-
18
-
-
84881513620
-
The clinical approach to the detection of lipodystrophy - An AACE consensus statement
-
Handelsman Y, Oral EA, Bloomgarden ZT, et al. The clinical approach to the detection of lipodystrophy - an AACE consensus statement. Endocr Pract. 2013;19(1):107-116.
-
(2013)
Endocr Pract
, vol.19
, Issue.1
, pp. 107-116
-
-
Handelsman, Y.1
Oral, E.A.2
Bloomgarden, Z.T.3
-
19
-
-
84995459787
-
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance
-
Lotta LA, Gulati P, Day FR, et al. Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. Nat Genet. 2017;49(1):17-26.
-
(2017)
Nat Genet
, vol.49
, Issue.1
, pp. 17-26
-
-
Lotta, L.A.1
Gulati, P.2
Day, F.R.3
-
25
-
-
1542510700
-
Acquired and inherited lipodystrophies
-
Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004;350(12):1220-1234.
-
(2004)
N Engl J Med
, vol.350
, Issue.12
, pp. 1220-1234
-
-
Garg, A.1
-
26
-
-
33744458946
-
-
Accessed August 30, 2016
-
van Maldergem L [database on the Internet]. Berardinelli-Seip Congenital Lipodystrophy; 2009. Available from: http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1007&Disease_Disease_Search_diseaseGroup=congenital-generalizedlipodystrophy&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Berardinelli-Seip-congenital-lipodystrophy&title=Berardinelli-Seip-congenital-lipodystrophy&search=Disease_Search_Simple. Accessed August 30, 2016.
-
(2009)
Berardinelli-Seip Congenital Lipodystrophy
-
-
van Maldergem, L.1
-
27
-
-
85032858530
-
-
Accessed August 30, 2016
-
Vantyghem M-C [database on the Internet]. Partial Acquired Lipodystrophy; 2006. Available from: http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11131&Disease_Disease_Search_diseaseGroup=79087&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Partial-acquired-lipodystrophy&title=Partial-acquiredlipodystrophy&search=Disease_Search_Simple. Accessed August 30, 2016.
-
(2006)
Partial Acquired Lipodystrophy
-
-
Vantyghem, M.-C.1
-
28
-
-
85032859459
-
-
Accessed August 30, 2016
-
Vantyghem M-C [database on the Internet]. Acquired Generalized Lipodystrophy; 2009. Available from: http://www.orpha.net/consor/cgibin/Disease_Search.php?lng=EN&data_id=11130&Disease_Disease_Search_diseaseGroup=acquired-generalized-lipodystrophy&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Acquired-generalized-lipodystrophy&title=Acquired-generalized-lipodystrophy&search=Disease_Search_Simple. Accessed August 30, 2016.
-
(2009)
Acquired Generalized Lipodystrophy
-
-
Vantyghem, M.-C.1
-
29
-
-
85032859027
-
-
Accessed August 30, 2016
-
Vigouroux C [database on the Internet]. Familial Partial Lipodystrophy; 2015. Available from: http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=13323&Disease_Disease_Search_diseaseGroup=familial-partial-lipodystrophy&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Familial-partial-lipodystrophy&title=Familial-partiallipodystrophy&search=Disease_Search_Simple. Accessed August 30, 2016.
-
(2015)
Familial Partial Lipodystrophy
-
-
Vigouroux, C.1
-
30
-
-
85032858577
-
-
Accessed March 1, 2017
-
United States Food and Drug Administration Department of Health and Human Services [webpage on the Internet]. FAQ Document 2015; 2015. Available from: https://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/HowtoapplyforOrphanProductDesignation/ucm240819.htm. Accessed March 1, 2017.
-
(2015)
FAQ Document 2015
-
-
-
31
-
-
0000460102
-
Interval estimation for a proportion
-
Brown LD, Cat TT, DasGupta A. Interval estimation for a proportion. Stat Sci. 2001;16:101-133.
-
(2001)
Stat Sci
, vol.16
, pp. 101-133
-
-
Brown, L.D.1
Cat, T.T.2
DasGupta, A.3
-
32
-
-
77955249156
-
-
Accessed May 4, 2017
-
Sergeant ESG [webpage on the Internet]. Epitools Epidemiological Calculators; 2017. Available from: http://epitools.ausvet.com.au/content.php?page=CIProportion. Accessed May 4, 2017.
-
(2017)
Epitools Epidemiological Calculators
-
-
Sergeant, E.S.G.1
-
33
-
-
84978382674
-
Natural history of congenital generalized lipodystrophy: A nationwide study from Turkey
-
Akinci B, Onay H, Demir T, et al. Natural history of congenital generalized lipodystrophy: a nationwide study from Turkey. J Clin Endocrinol Metab. 2016;101(7):2759-2767.
-
(2016)
J Clin Endocrinol Metab
, vol.101
, Issue.7
, pp. 2759-2767
-
-
Akinci, B.1
Onay, H.2
Demir, T.3
|