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For: Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. J Inherit Metab Dis 2015;38:99-110. [DOI: 10.1007/s10545-014-9759-7] [Cited by in Crossref: 28] [Cited by in F6Publishing: 28] [Article Influence: 3.5] [Reference Citation Analysis]
Number Citing Articles
1 Finsterer J, Scorza FA, Fiorini AC, Scorza CA. MEGDEL Syndrome. Pediatr Neurol 2020;110:25-9. [PMID: 32684373 DOI: 10.1016/j.pediatrneurol.2020.03.009] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
2 Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet 2015;96:245-57. [PMID: 25597510 DOI: 10.1016/j.ajhg.2014.12.013] [Cited by in Crossref: 67] [Cited by in F6Publishing: 53] [Article Influence: 9.6] [Reference Citation Analysis]
3 Jackson CL, Walch L, Verbavatz JM. Lipids and Their Trafficking: An Integral Part of Cellular Organization. Dev Cell 2016;39:139-53. [PMID: 27780039 DOI: 10.1016/j.devcel.2016.09.030] [Cited by in Crossref: 77] [Cited by in F6Publishing: 62] [Article Influence: 15.4] [Reference Citation Analysis]
4 Howard SR. The Genetic Basis of Delayed Puberty. Front Endocrinol (Lausanne) 2019;10:423. [PMID: 31293522 DOI: 10.3389/fendo.2019.00423] [Cited by in Crossref: 13] [Cited by in F6Publishing: 7] [Article Influence: 4.3] [Reference Citation Analysis]
5 Shukla A, Saneto RP, Hebbar M, Mirzaa G, Girisha KM. A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ. Am J Med Genet A 2018;176:1232-7. [PMID: 29681094 DOI: 10.1002/ajmg.a.38687] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
6 Jones DE, Jennings EA, Ryan RO. Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism. Metabolites 2022;12:377. [DOI: 10.3390/metabo12050377] [Reference Citation Analysis]
7 Garcia-cazorla À, Mochel F, Lamari F, Saudubray J. The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. J Inherit Metab Dis 2015;38:19-40. [DOI: 10.1007/s10545-014-9776-6] [Cited by in Crossref: 35] [Cited by in F6Publishing: 30] [Article Influence: 4.4] [Reference Citation Analysis]
8 Vantroys E, Smet J, Vanlander AV, Vergult S, De Bruyne R, Roels F, Stepman H, Roeyers H, Menten B, Van Coster R. Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency. Orphanet J Rare Dis 2018;13:80. [PMID: 29783990 DOI: 10.1186/s13023-018-0822-6] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 2.5] [Reference Citation Analysis]
9 Shanbhag K, Mhetre A, Khandelwal N, Kamat SS. The Lysophosphatidylserines-An Emerging Class of Signalling Lysophospholipids. J Membr Biol 2020;253:381-97. [PMID: 32767057 DOI: 10.1007/s00232-020-00133-2] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
10 Yu J, Wu C, Wu Q, Huang J, Fu W, Xie X, Li W, Tang W, Xu C, Jin G. PCYT1A suppresses proliferation and migration via inhibiting mTORC1 pathway in lung adenocarcinoma. Biochem Biophys Res Commun 2020;529:353-61. [PMID: 32703435 DOI: 10.1016/j.bbrc.2020.05.164] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
11 Guarani V, Jardel C, Chrétien D, Lombès A, Bénit P, Labasse C, Lacène E, Bourillon A, Imbard A, Benoist JF, Dorboz I, Gilleron M, Goetzman ES, Gaignard P, Slama A, Elmaleh-Bergès M, Romero NB, Rustin P, Ogier de Baulny H, Paulo JA, Harper JW, Schiff M. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. Elife 2016;5:e17163. [PMID: 27623147 DOI: 10.7554/eLife.17163] [Cited by in Crossref: 28] [Cited by in F6Publishing: 15] [Article Influence: 4.7] [Reference Citation Analysis]
12 Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol 2017;82:1004-15. [PMID: 29205472 DOI: 10.1002/ana.25110] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 4.5] [Reference Citation Analysis]
13 Vélez-Santamaría V, Verdura E, Macmurdo C, Planas-Serra L, Schlüter A, Casas J, Martínez JJ, Casasnovas C, Si Y, Thompson SS, Maroofian R, Pujol A. Expanding the clinical and genetic spectrum of PCYT2-related disorders. Brain 2020;143:e76. [PMID: 32889549 DOI: 10.1093/brain/awaa229] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
14 Bargui R, Solgadi A, Prost B, Chester M, Ferreiro A, Piquereau J, Moulin M. Phospholipids: Identification and Implication in Muscle Pathophysiology. Int J Mol Sci 2021;22:8176. [PMID: 34360941 DOI: 10.3390/ijms22158176] [Reference Citation Analysis]
15 Harbulot C, Paquay S, Dorboz I, Pichard S, Bourillon A, Benoist JF, Jardel C, Ogier de Baulny H, Boespflug-Tanguy O, Schiff M. Transient neonatal renal failure and massive polyuria in MEGDEL syndrome. Mol Genet Metab Rep 2016;7:8-10. [PMID: 27331002 DOI: 10.1016/j.ymgmr.2016.03.001] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
16 Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans C, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-mann I, Schöls L, Synofzik M. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. J Med Genet 2017;55:39-47. [DOI: 10.1136/jmedgenet-2017-104622] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
17 Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse. Hum Mutat 2015;36:301-6. [PMID: 25512002 DOI: 10.1002/humu.22743] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 2.9] [Reference Citation Analysis]
18 Jones DE, Klacking E, Ryan RO. Inborn errors of metabolism associated with 3-methylglutaconic aciduria. Clin Chim Acta 2021;522:96-104. [PMID: 34411555 DOI: 10.1016/j.cca.2021.08.016] [Reference Citation Analysis]
19 Xu J, Taubert S. Beyond Proteostasis: Lipid Metabolism as a New Player in ER Homeostasis. Metabolites 2021;11:52. [PMID: 33466824 DOI: 10.3390/metabo11010052] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
20 Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P, Straumann D, Synofzik M. Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature. J Neurol 2015;262:194-202. [PMID: 25359264 DOI: 10.1007/s00415-014-7555-9] [Cited by in Crossref: 23] [Cited by in F6Publishing: 17] [Article Influence: 2.9] [Reference Citation Analysis]
21 Yalnızoǧlu D, Özgül RK, Oǧuz KK, Özer B, Yücel-Yılmaz D, Gürbüz B, Serdaroǧlu E, Erol İ, Topçu M, Dursun A. Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect. J Inherit Metab Dis 2019;42:381-8. [PMID: 30701556 DOI: 10.1002/jimd.12016] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
22 Howard SR, Dunkel L. Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries. Endocr Rev 2019;40:1285-317. [PMID: 31220230 DOI: 10.1210/er.2018-00248] [Cited by in Crossref: 23] [Cited by in F6Publishing: 20] [Article Influence: 11.5] [Reference Citation Analysis]
23 Meijer IA, Sasarman F, Maftei C, Rossignol E, Vanasse M, Major P, Mitchell GA, Brunel-Guitton C. LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy. Mol Genet Metab Rep 2015;5:85-8. [PMID: 28649549 DOI: 10.1016/j.ymgmr.2015.10.010] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 2.1] [Reference Citation Analysis]
24 Tingaud-Sequeira A, Raldúa D, Lavie J, Mathieu G, Bordier M, Knoll-Gellida A, Rambeau P, Coupry I, André M, Malm E, Möller C, Andreasson S, Rendtorff ND, Tranebjærg L, Koenig M, Lacombe D, Goizet C, Babin PJ. Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. Neurobiol Dis 2017;98:36-51. [PMID: 27890673 DOI: 10.1016/j.nbd.2016.11.008] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 3.3] [Reference Citation Analysis]
25 Horvath B, Pfister KM, Rupp A, Kloesel B. MEGDEL Syndrome and Its Anesthetic Implications. Cureus 2021;13:e17761. [PMID: 34540505 DOI: 10.7759/cureus.17761] [Reference Citation Analysis]
26 Lamari F, Saudubray J, Mitchell GA. Disorders of Intracellular Triglyceride and Phospholipid Metabolism. In: Saudubray J, Baumgartner MR, Walter J, editors. Inborn Metabolic Diseases. Berlin: Springer Berlin Heidelberg; 2016. pp. 477-91. [DOI: 10.1007/978-3-662-49771-5_34] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
27 Taylor C, Rao ES, Pierre G, Chronopoulou E, Hornby B, Heyman A, Vernon HJ. Clinical presentation and natural history of Barth Syndrome: An overview. J Inherit Metab Dis 2021. [PMID: 34355402 DOI: 10.1002/jimd.12422] [Reference Citation Analysis]
28 Pekkinen M, Terhal PA, Botto LD, Henning P, Mäkitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Mäkitie O. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. JCI Insight 2019;4:126180. [PMID: 30779713 DOI: 10.1172/jci.insight.126180] [Cited by in Crossref: 26] [Cited by in F6Publishing: 22] [Article Influence: 8.7] [Reference Citation Analysis]
29 Dard R, Meyniel C, Touitou V, Stevanin G, Lamari F, Durr A, Ewenczyk C, Mochel F. Mutations in DDHD1 , encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. European Journal of Medical Genetics 2017;60:639-42. [DOI: 10.1016/j.ejmg.2017.08.015] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 3.0] [Reference Citation Analysis]
30 Reynolds S. Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. J Multidiscip Healthc 2015;8:345-58. [PMID: 26251611 DOI: 10.2147/JMDH.S54802] [Cited by in Crossref: 15] [Cited by in F6Publishing: 4] [Article Influence: 2.1] [Reference Citation Analysis]