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2015 2
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109 results

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Page 1
Vitamin B12 absorption and malabsorption.
Guéant JL, Guéant-Rodriguez RM, Alpers DH. Guéant JL, et al. Vitam Horm. 2022;119:241-274. doi: 10.1016/bs.vh.2022.01.016. Epub 2022 Mar 1. Vitam Horm. 2022. PMID: 35337622 Review.
Other causes include pancreatic insufficiency, obstructive Jaundice, tropical sprue and celiac disease, bacterial overgrowth, parasitic infestations, Zollinger-Ellison syndrome, inflammatory bowel diseases, chronic radiation enteritis of the distal ileum and short bowel. . …
Other causes include pancreatic insufficiency, obstructive Jaundice, tropical sprue and celiac disease, bacterial overgrowth, parasitic infe …
POLG-related disorders and their neurological manifestations.
Rahman S, Copeland WC. Rahman S, et al. Nat Rev Neurol. 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. Nat Rev Neurol. 2019. PMID: 30451971 Free PMC article. Review.
The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most severe phenotypes; childhood myocerebrohepatopathy spectrum, which presents within the first 3 years of life; myoclonic epilepsy myopathy sensory ata …
The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most severe ph …
Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Goodship TH, Cook HT, Fakhouri F, Fervenza FC, Frémeaux-Bacchi V, Kavanagh D, Nester CM, Noris M, Pickering MC, Rodríguez de Córdoba S, Roumenina LT, Sethi S, Smith RJ; Conference Participants. Goodship TH, et al. Kidney Int. 2017 Mar;91(3):539-551. doi: 10.1016/j.kint.2016.10.005. Epub 2016 Dec 16. Kidney Int. 2017. PMID: 27989322 Free article.
In both atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) complement plays a primary role in disease pathogenesis. ...
In both atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) complement plays a primary role in disease pathogenesis …
Efficacy and safety of sparsentan versus irbesartan in patients with IgA nephropathy (PROTECT): 2-year results from a randomised, active-controlled, phase 3 trial.
Rovin BH, Barratt J, Heerspink HJL, Alpers CE, Bieler S, Chae DW, Diva UA, Floege J, Gesualdo L, Inrig JK, Kohan DE, Komers R, Kooienga LA, Lafayette R, Maes B, Małecki R, Mercer A, Noronha IL, Oh SW, Peh CA, Praga M, Preciado P, Radhakrishnan J, Rheault MN, Rote WE, Tang SCW, Tesar V, Trachtman H, Trimarchi H, Tumlin JA, Wong MG, Perkovic V; DUPRO steering committee and PROTECT Investigators. Rovin BH, et al. Lancet. 2023 Dec 2;402(10417):2077-2090. doi: 10.1016/S0140-6736(23)02302-4. Epub 2023 Nov 3. Lancet. 2023. PMID: 37931634 Clinical Trial.
The Significance of Hematuria in Podocytopathies.
Marchel D, Trachtman H, Larkina M, Helmuth M, Lai Yee JY, Fermin D, Bomback AS, Canetta PA, Gipson DS, Mottl AK, Parekh RS, Saha MK, Sampson MG, Lafayette RA, Mariani LH; Nephrotic Syndrome Study Network (NEPTUNE) and Cure Glomerulonephropathy (CureGN). Marchel D, et al. Clin J Am Soc Nephrol. 2024 Jan 1;19(1):56-66. doi: 10.2215/CJN.0000000000000309. Epub 2023 Sep 21. Clin J Am Soc Nephrol. 2024. PMID: 37733352 Free PMC article.
METHODS: Hematuria was assessed at the initial urinalysis in participants with the following podocytopathies-membranous nephropathy, minimal change disease, and FSGS-in the Nephrotic Syndrome Study Network and Cure Glomerulonephropathy cohorts with >24 months of follow- …
METHODS: Hematuria was assessed at the initial urinalysis in participants with the following podocytopathies-membranous nephropathy, minimal …
Recurrent schilder's disease.
Dunn-Pirio AM, Eckstein C. Dunn-Pirio AM, et al. Mult Scler Relat Disord. 2018 Nov;26:8-10. doi: 10.1016/j.msard.2018.09.001. Epub 2018 Sep 5. Mult Scler Relat Disord. 2018. PMID: 30212769
Schilder's disease is a rare and aggressive central nervous system demyelinating disorder that is typically monophasic and steroid responsive. Here, we present an unusual case of a teenager with Schilder's disease who was treated with corticosteroids and had a clini …
Schilder's disease is a rare and aggressive central nervous system demyelinating disorder that is typically monophasic and steroid re …
Astrocytic pathology in Alpers' syndrome.
Smith LA, Chen C, Lax NZ, Taylor RW, Erskine D, McFarland R. Smith LA, et al. Acta Neuropathol Commun. 2023 May 31;11(1):86. doi: 10.1186/s40478-023-01579-w. Acta Neuropathol Commun. 2023. PMID: 37259148 Free PMC article.
Therefore, we sought to phenotypically characterise astrocytic pathology in Alpers' syndrome. We performed a detailed quantitative investigation of reactive astrocytes in post-mortem neocortical tissues from thirteen patients with Alpers' syndrome, eig …
Therefore, we sought to phenotypically characterise astrocytic pathology in Alpers' syndrome. We performed a detailed quantita …
Schilder's disease.
Magriço M, Lorga T, Serrazina F, Salavisa M. Magriço M, et al. Pract Neurol. 2023 Oct;23(5):439-440. doi: 10.1136/pn-2023-003736. Epub 2023 May 19. Pract Neurol. 2023. PMID: 37208166 No abstract available.
Mapping the genetic landscape across 14 psychiatric disorders.
Grotzinger AD, Werme J, Peyrot WJ, Frei O, de Leeuw C, Bicks LK, Guo Q, Margolis MP, Coombes BJ, Batzler A, Pazdernik V, Biernacka JM, Andreassen OA, Anttila V, Børglum AD, Breen G, Cai N, Demontis D, Edenberg HJ, Faraone SV, Franke B, Gandal MJ, Gelernter J, Hatoum AS, Hettema JM, Johnson EC, Jonas KG, Knowles JA, Koenen KC, Maihofer AX, Mallard TT, Mattheisen M, Mitchell KS, Neale BM, Nievergelt CM, Nurnberger JI, O'Connell KS, Peterson RE, Robinson EB, Sanchez-Roige SS, Santangelo SL, Scharf JM, Stefansson H, Stefansson K, Stein MB, Strom NI, Thornton LM, Tucker-Drob EM, Verhulst B, Waldman ID, Walters GB, Wray NR, Yu D; Anxiety Disorders Working Group of the Psychiatric Genomics Consortium; Attention-Deficit/Hyperactivity Disorder (ADHD) Working Group of the Psychiatric Genomics Consortium; Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Nicotine Dependence GenOmics (iNDiGO) Consortium; Obsessive-Compulsive Disorder and Tourett… See abstract for full author list ➔ Grotzinger AD, et al. Nature. 2026 Jan;649(8096):406-415. doi: 10.1038/s41586-025-09820-3. Epub 2025 Dec 10. Nature. 2026. PMID: 41372416 Free PMC article.
MRI signs of CNS demyelinating diseases.
Etemadifar M, Ashourizadeh H, Nouri H, Kargaran PK, Salari M, Rayani M, Aghababaee A, Abhari AP. Etemadifar M, et al. Mult Scler Relat Disord. 2021 Jan;47:102665. doi: 10.1016/j.msard.2020.102665. Epub 2020 Dec 4. Mult Scler Relat Disord. 2021. PMID: 33310421 Review.
Given the distinct therapeutic approaches for each of these diseases, a decisive and reliable diagnosis in patients presenting with demyelination-associated symptoms is of crucial value. Multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) are major e …
Given the distinct therapeutic approaches for each of these diseases, a decisive and reliable diagnosis in patients presenting with demyelin …
109 results