Julian Raiman
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Explore the profile of Julian Raiman including associated specialties, affiliations and a list of published articles.
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43
Citations
1030
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Recent Articles
1.
Rajasekaran V, Santra S, Kelgeri C, Johansen L, Vijay S, Sreekantam S, et al.
Pediatr Transplant
. 2024 Aug;
28(7):e14839.
PMID: 39212088
Background: Liver transplantation (LT) normalizes fasting tolerance in glycogen storage disease type (GSD) 1b. However, reported outcomes post-LT with respect to correction of neutropenia, infection risk and growth are varied....
2.
Sharma R, Hastings C, Staretz-Chacham O, Raiman J, Paucar M, Spiegel R, et al.
Mol Genet Metab Rep
. 2023 Sep;
36:100988.
PMID: 37670901
Background: Niemann-Pick disease type C (NPC) is a rare, fatal, pan-ethnic, autosomal recessive lysosomal storage disease characterized by progressive major organ failure and neurodegeneration. Preclinical studies confirmed a critical role...
3.
Mitchell J, Burton B, Bober M, Campeau P, Cohen S, Dosenovic S, et al.
Mol Genet Metab
. 2022 Sep;
137(1-2):164-172.
PMID: 36087504
Background: The Morquio A Registry Study (MARS) is an ongoing, multinational, observational study of patients with MPS IVA. Key objectives of MARS are to characterize the heterogeneity and natural history...
4.
Sreekantam S, Smith L, Stewart C, Kearney S, Lawson S, Raiman J, et al.
Mol Genet Metab Rep
. 2022 Jun;
32:100881.
PMID: 35663302
Hunter syndrome is a neurodegenerative lysosomal storage disorder with limited treatment options to halt the progressive neurocognitive decline. Whilst Intravenous enzyme replacement therapy (ERT) does not cross the blood brain...
5.
Rensvold J, Shishkova E, Sverchkov Y, Miller I, Cetinkaya A, Pyle A, et al.
Nature
. 2022 May;
606(7913):382-388.
PMID: 35614220
Mitochondria are epicentres of eukaryotic metabolism and bioenergetics. Pioneering efforts in recent decades have established the core protein componentry of these organelles and have linked their dysfunction to more than...
6.
Magrinelli F, Cali E, Braga V, Yis U, Tomoum H, Shamseldin H, et al.
Mov Disord Clin Pract
. 2022 Feb;
9(2):218-228.
PMID: 35141356
Background: Biallelic loss-of-function variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives: To fully characterize, both phenotypically...
7.
Kovac V, Shapiro E, Rudser K, Mueller B, Eisengart J, Delaney K, et al.
Mol Genet Metab
. 2022 Jan;
135(2):122-132.
PMID: 35012890
Objective: To assess our hypothesis that brain macrostructure is different in individuals with mucopolysaccharidosis type I (MPS I) and healthy controls (HC), we conducted a comprehensive multicenter study using a...
8.
Modin L, Ng V, Gissen P, Raiman J, Pfister E, Das A, et al.
Children (Basel)
. 2021 Sep;
8(9).
PMID: 34572251
Background: To report on clinical presentation and outcomes of children who underwent liver transplantation (LTx) and were subsequently diagnosed to have Niemann-Pick type C (NPC). Methods: Retrospective, descriptive, multi-centre review...
9.
Roth J, Inbar-Feigenberg M, Raiman J, Bisch M, Chakraborty P, Mitchell J, et al.
Mol Genet Metab
. 2021 Jun;
133(3):289-296.
PMID: 34090760
Introduction: Musculoskeletal findings in MPS can progress after enzyme replacement. Our aim was to examine synovial recesses, tendons, retinacula and pulleys using ultrasonography for structural and inflammatory changes. Material And...
10.
Bourque D, Mellin-Sanchez L, Bullivant G, Cruz V, Feigenbaum A, Hewson S, et al.
JIMD Rep
. 2021 Jan;
57(1):102-114.
PMID: 33473346
Biallelic variants in results in the combined methylmalonic aciduria and homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC deficiency with their phenotypes, genotypes, biochemical parameters,...