These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 37528333)

  • 41. [Unusual pulmonary presentation of lysinuric protein intolerance].
    Berthoux E; Durieu I; Guffon N; Sivova N; Gamondes D; Cordier JF; Cottin V
    Rev Mal Respir; 2010 Sep; 27(7):770-4. PubMed ID: 20863980
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Lysinuric protein intolerance caused by a homozygous
    Kalay I; Aykut H; Caliskan Z; Yigit G; Wollnik B
    Mol Genet Metab Rep; 2023 Dec; 37():101022. PubMed ID: 38053936
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
    Shoji Y; Noguchi A; Shoji Y; Matsumori M; Takasago Y; Takayanagi M; Yoshida Y; Ihara K; Hara T; Yamaguchi S; Yoshino M; Kaji M; Yamamoto S; Nakai A; Koizumi A; Hokezu Y; Nagamatsu K; Mikami H; Kitajima I; Takada G
    Hum Mutat; 2002 Nov; 20(5):375-81. PubMed ID: 12402335
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
    Font-Llitjós M; Rodríguez-Santiago B; Espino M; Sillué R; Mañas S; Gómez L; Pérez-Jurado LA; Palacín M; Nunes V
    Eur J Hum Genet; 2009 Jan; 17(1):71-9. PubMed ID: 18716612
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Lysinuric protein intolerance.
    Simell O; Perheentupa J; Rapola J; Visakorpi JK; Eskelin LE
    Am J Med; 1975 Aug; 59(2):229-40. PubMed ID: 1155480
    [TBL] [Abstract][Full Text] [Related]  

  • 46. [Vitamin deficiency-induced pancytopenia mimicking leukemia. Three cases].
    Cacoub P; Gatfosse M; Derbel A; Chapelon C; Verny C; Godeau P
    Presse Med; 1991 Oct; 20(33):1603-6. PubMed ID: 1835075
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Pancytopenia As the Initial Manifestation of Brucellosis in Children.
    Karli A; Sensoy G; Albayrak C; Koken O; Cıraklı S; Belet N; Albayrak D
    Vector Borne Zoonotic Dis; 2015 Sep; 15(9):545-9. PubMed ID: 26367782
    [TBL] [Abstract][Full Text] [Related]  

  • 48. [Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
    Cui D; Hu YH; Tang G; Shen D; Chen L; Liao JX; Chen SL
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Apr; 21(4):375-380. PubMed ID: 31014432
    [TBL] [Abstract][Full Text] [Related]  

  • 49. A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.
    Wang Y; Li H; Huang Z; Yang S; Lu C; Zhang W; Zhao S; Yang C; Chen D
    Heliyon; 2024 Mar; 10(5):e27044. PubMed ID: 38444501
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.
    Bijarnia-Mahay S; Jain V; Bansal RK; Reddy GM; Haberle J
    Indian Pediatr; 2016 Aug; 53(8):732-4. PubMed ID: 27567650
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Clinico-haematological profile of patients with bicytopenia.
    Singh A; Hungund B; Kumar L; Pattanshetti M
    Pathology; 2018 Aug; 50(5):540-548. PubMed ID: 30032928
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
    Stroup BM; Marom R; Li X; Hsu CW; Chang CY; Truong LD; Dawson B; Grafe I; Chen Y; Jiang MM; Lanza D; Green JR; Sun Q; Barrish JP; Ani S; Christiansen AE; Seavitt JR; Dickinson ME; Kheradmand F; Heaney JD; Lee B; Burrage LC
    Hum Mol Genet; 2020 Aug; 29(13):2171-2184. PubMed ID: 32504080
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients.
    Parto K; Kallajoki M; Aho H; Simell O
    Hum Pathol; 1994 Apr; 25(4):400-7. PubMed ID: 8163273
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency.
    Pongphitcha P; Sirachainan N; Khongkraparn A; Tim-Aroon T; Songdej D; Wattanasirichaigoon D
    BMC Pediatr; 2022 Apr; 22(1):233. PubMed ID: 35488219
    [TBL] [Abstract][Full Text] [Related]  

  • 55. An 8-Year-Old Boy With Fever, Splenomegaly, and Pancytopenia.
    Offenbacher R; Rybinski B; Joseph T; Rahmani N; Boucher T; Weiser DA
    Pediatrics; 2020 Jul; 146(1):. PubMed ID: 32532792
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Familial lysinuric protein intolerance presenting as coma in two adult siblings.
    Shaw PJ; Dale G; Bates D
    J Neurol Neurosurg Psychiatry; 1989 May; 52(5):648-51. PubMed ID: 2732736
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase.
    Ono N; Kishida K; Tokumoto K; Watanabe M; Shimada Y; Yoshinaga J; Fujii M
    Intern Med; 1992 Jan; 31(1):55-9. PubMed ID: 1568044
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Lysinuric protein intolerance.
    Perheentupa J; Simell O
    Birth Defects Orig Artic Ser; 1974; 10(4):201-7. PubMed ID: 4220398
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.
    Kose E; Besci O; Gudeloglu E; Suncak S; Oymak Y; Ozen S; Isguder R
    J Pediatr Endocrinol Metab; 2020 Nov; 33(11):1487-1499. PubMed ID: 32841161
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Children with lysinuric protein intolerance: Experience from a lower middle income country.
    Hashmi SB; Ahmed S
    World J Clin Pediatr; 2022 Jul; 11(4):369-374. PubMed ID: 36052112
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.