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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1794 1
1839 1
1863 1
1895 1
1896 1
1900 1
1901 1
1909 1
1912 1
1913 3
1915 1
1916 1
1919 1
1920 1
1928 1
1929 1
1931 1
1933 1
1934 2
1935 1
1936 4
1937 1
1938 1
1940 1
1942 2
1944 2
1945 1
1946 8
1947 5
1948 7
1949 10
1950 5
1951 11
1952 11
1953 15
1954 21
1955 20
1956 21
1957 11
1958 7
1959 12
1960 23
1961 21
1962 24
1963 17
1964 36
1965 26
1966 23
1967 19
1968 28
1969 47
1970 45
1971 39
1972 27
1973 38
1974 44
1975 268
1976 273
1977 245
1978 271
1979 244
1980 271
1981 280
1982 271
1983 320
1984 364
1985 383
1986 405
1987 458
1988 459
1989 566
1990 628
1991 621
1992 618
1993 704
1994 635
1995 636
1996 682
1997 686
1998 710
1999 713
2000 801
2001 777
2002 780
2003 908
2004 898
2005 919
2006 999
2007 1139
2008 1121
2009 1138
2010 1287
2011 1366
2012 1563
2013 1634
2014 1710
2015 1730
2016 1716
2017 1728
2018 1724
2019 1880
2020 2121
2021 2365
2022 2309
2023 2084
2024 2318
2025 2410
2026 9

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47,726 results

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Page 1
Showing results for cases df
Search for Casaes DF instead (1 results)
Hypopituitarism.
Ascoli P, Cavagnini F. Ascoli P, et al. Pituitary. 2006;9(4):335-42. doi: 10.1007/s11102-006-0416-5. Pituitary. 2006. PMID: 17077946 Review.
Before starting replacement therapy, concomitant corticotropin deficiency should be excluded in order to avoid acute adrenal insufficiency. Prolactin deficiency is also very rare and generally occurs after global failure of pituitary function. ...Pulsatile GnRH admi …
Before starting replacement therapy, concomitant corticotropin deficiency should be excluded in order to avoid acute adrenal insuffic …
GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.
Rukerd MRZ, Mirkamali H, Nakhaie M, Alizadeh SD. Rukerd MRZ, et al. BMC Infect Dis. 2024 Nov 4;24(1):1239. doi: 10.1186/s12879-024-10145-1. BMC Infect Dis. 2024. PMID: 39497062 Free PMC article.
Furthermore, the increased susceptibility to infections in GATA2 deficiency can trigger hemophagocytic lymphohistiocytosis (HLH) in these patients. Our systematic review evaluates reported cases of GATA2 deficiency and HLH in the literature. ...Family histori …
Furthermore, the increased susceptibility to infections in GATA2 deficiency can trigger hemophagocytic lymphohistiocytosis (HLH) in t …
Natural history of deoxyguanosine kinase deficiency.
Keshavan N, Rahman S. Keshavan N, et al. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108554. doi: 10.1016/j.ymgme.2024.108554. Epub 2024 Jul 24. Mol Genet Metab. 2024. PMID: 39079226 Free article.
In this retrospective study, we seek to describe the natural history of deoxyguanosine kinase deficiency and identify any genotype-phenotype correlations. METHODS: Retrospective literature search and collation of data from genetically confirmed cases of deoxyguanosi …
In this retrospective study, we seek to describe the natural history of deoxyguanosine kinase deficiency and identify any genotype-ph …
Selective IgG1 deficiency.
Lacombe C, Aucouturier P, Preud'homme JL. Lacombe C, et al. Clin Immunol Immunopathol. 1997 Aug;84(2):194-201. doi: 10.1006/clin.1997.4386. Clin Immunol Immunopathol. 1997. PMID: 9245552
A familial context of immunodeficiency was frequent, more often combined than selective IgG1 deficiency. A familial association with IgG2 deficiency was found also and IgG1 replaced IgG2 deficiency in 3 cases (and succeeded to or preceded more complex …
A familial context of immunodeficiency was frequent, more often combined than selective IgG1 deficiency. A familial association with …
Atypical cases of phenylketonuria.
Dhondt JL, Farriaux JP. Dhondt JL, et al. Eur J Pediatr. 1987;146 Suppl 1:A38-43. doi: 10.1007/BF00442055. Eur J Pediatr. 1987. PMID: 3319636 Review. No abstract available.
Congenital Alpha-2 Antiplasmin Deficiency: a Literature Survey and Analysis of 123 Cases.
Matrane W, Bencharef H, Oukkache B. Matrane W, et al. Clin Lab. 2020 Dec 1;66(12). doi: 10.7754/Clin.Lab.2020.200207. Clin Lab. 2020. PMID: 33337837 Review.
Due to the rarity of this entity, we performed an analysis of reported cases of congenital alpha-2 antiplasmin deficiency to share uncommon cases with the medical community, to raise awareness of the condition among clinicians, and to promote better patient m …
Due to the rarity of this entity, we performed an analysis of reported cases of congenital alpha-2 antiplasmin deficiency to s …
Idiopathic isolated adrenocorticotropic hormone deficiency: a systematic review of a heterogeneous and underreported disease.
Van Mieghem E, De Block C, De Herdt C. Van Mieghem E, et al. Pituitary. 2024 Feb;27(1):23-32. doi: 10.1007/s11102-023-01366-9. Epub 2023 Dec 27. Pituitary. 2024. PMID: 38151529
Articles describing an adult case with a diagnosis of ACTH deficiency using dynamic testing, no deficiency of other pituitary axes, and MRI of the brain/pituitary protocolled as normal, were included. Exclusion criteria were cases describing congenital IAD, …
Articles describing an adult case with a diagnosis of ACTH deficiency using dynamic testing, no deficiency of other pituitary …
Medium chain acyl-CoA dehydrogenase deficiency.
Touma EH, Charpentier C. Touma EH, et al. Arch Dis Child. 1992 Jan;67(1):142-5. doi: 10.1136/adc.67.1.142. Arch Dis Child. 1992. PMID: 1739332 Free PMC article. Review.
From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months and a mean age at death of 18.5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases …
From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months an …
Truly selective primary IgM deficiency is probably very rare.
Janssen LMA, Macken T, Creemers MCW, Pruijt JFM, Eijk JJJ, de Vries E. Janssen LMA, et al. Clin Exp Immunol. 2018 Feb;191(2):203-211. doi: 10.1111/cei.13065. Epub 2017 Oct 27. Clin Exp Immunol. 2018. PMID: 28984901 Free PMC article. Review.
A total of 359 of 2064 (17%) cases from our cohort had primary isolated decreased serum-IgM, proven persistent in 45 of 359 (13%) cases; their medical charts were reviewed. Our main finding is that true sIgMdef is probably very rare. Only six of 261 (2%) literature …
A total of 359 of 2064 (17%) cases from our cohort had primary isolated decreased serum-IgM, proven persistent in 45 of 359 (13%) …
Heme Oxygenase-1 Deficiency and Oxidative Stress: A Review of 9 Independent Human Cases and Animal Models.
Yachie A. Yachie A. Int J Mol Sci. 2021 Feb 3;22(4):1514. doi: 10.3390/ijms22041514. Int J Mol Sci. 2021. PMID: 33546372 Free PMC article. Review.
Since Yachie et al. reported the first description of human heme oxygenase (HO)-1 deficiency more than 20 years ago, few additional human cases have been reported in the literature. ...In vivo and in vitro studies have indicated that impaired HO-1 production results …
Since Yachie et al. reported the first description of human heme oxygenase (HO)-1 deficiency more than 20 years ago, few additional h …
47,726 results
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