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1                                              MSUD can be classified into genetic subtypes according t
2                                              MSUD is an orphan disease with a need for novel drug int
3                                              MSUD may provide insights into the function of genes nec
4 rhegmatogenous retinal detachment (RRD) in a MSUD patient.
5                                      Another MSUD mutation (T166M-alpha), which affects one of the re
6 neuropsychiatric problems among 37 classical MSUD patients (ages 5-35 years, 26 on dietary therapy, 1
7       Compared with 26 age-matched controls, MSUD patients were at higher risk for disorders of cogni
8 rom 63 individuals with clinically diagnosed MSUD were tested by retroviral complementation of branch
9 d as the cause of maple syrup urine disease (MSUD) for decades, treatment options for this disorder h
10                   Maple syrup urine disease (MSUD) is a metabolic disorder associated with often-fata
11                   Maple syrup urine disease (MSUD) is a rare metabolic disorder, affecting the metabo
12                   Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branche
13                   Maple Syrup Urine Disease (MSUD) is an inherited disorder caused by the dysfunction
14                   Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino a
15                   Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino a
16                   Maple syrup urine disease (MSUD) or branched-chain alpha-ketoaciduria is an autosom
17 these residues in maple syrup urine disease (MSUD) patients (R114W-alpha and R220W-alpha) or site-dir
18                   Maple syrup urine disease (MSUD) results from mutations affecting different subunit
19         Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and of
20 te types of human maple syrup urine disease (MSUD), a hereditary disorder caused by defects in BCKD a
21 iseases including maple syrup urine disease (MSUD), autism, and other related neurological disorders.
22  in patients with maple syrup urine disease (MSUD), phenylketonuria (PKU), and other metabolic diseas
23 te-onset forms of maple syrup urine disease (MSUD).
24 volved in meiotic silencing by unpaired DNA (MSUD) and observed macromolecular complex formation invo
25 , whereas meiotic silencing by unpaired DNA (MSUD) silences unpaired genes during meiosis.
26  known as meiotic silencing by unpaired DNA (MSUD).
27 sm called meiotic silencing by unpaired DNA (MSUD).
28  known as meiotic silencing by unpaired DNA (MSUD).
29 is called Meiotic Silencing by Unpaired DNA (MSUD).
30 ss called meiotic silencing by unpaired DNA (MSUD).
31  process, meiotic silencing by unpaired DNA (MSUD).
32 n observed in the cerebellum of experimental MSUD animals, as well as postmortem brain tissue from a
33 ned during surgery from a 24 year old female MSUD patient successfully operated on RRD.
34 uman BCKD and provide a structural basis for MSUD.
35  and will facilitate DNA-based diagnosis for MSUD in the Israeli population.
36  and will facilitate DNA-based diagnosis for MSUD in the Israeli population.
37 te providing information on the genotype for MSUD.
38 he neonatal stage is clinically relevant for MSUD and may offer a donor cell engraftment advantage.
39                       Two genes required for MSUD have been described previously: sad-1 (suppressor o
40 work has uncovered six proteins required for MSUD, all of which are also essential for meiotic progre
41  characterized two new proteins required for MSUD, namely SAD-4 and SAD-5.
42  DCL-1 and DCL-2, only DCL-1 is required for MSUD.
43  siRNA during Quelling, is also required for MSUD.
44 ected RNA polymerase (RdRP), is required for MSUD.
45 alternative potential treatment strategy for MSUD.
46 as a viable alternative clinical therapy for MSUD and other liver-based metabolic diseases.
47 itical contributor to the pathology of human MSUD.
48 2Cm may be responsible for a subset of human MSUD.
49  identify and characterize two novel type IB MSUD mutations in Israeli patients, which affect the E1b
50 are unique compared to previously identified MSUD proteins in that neither is required for sexual spo
51 nsive phenotype with a subset of the type II MSUD patients studied is also discussed.
52 ution in the E2 transacylase gene of type II MSUD, in which the E2 subunit of the BCKD complex is def
53                                           In MSUD, glutamate has been implicated in the pathogenesis
54 artate (NAA), and creatine concentrations in MSUD patients, which correlated with specific neuropsych
55 n can restore skeletal muscle homeostasis in MSUD by decreasing mitochondrial KIC production.
56 s and vitreous the amino acids implicated in MSUD (Valine, Leukine Isoleukine), were within normal ra
57 tudy, we identified seven novel mutations in MSUD patients from Israel.
58 tablish a genotype/phenotype relationship in MSUD, with the ultimate goal of unraveling the complexit
59               A murine model of intermediate MSUD (iMSUD) shows significant skeletal muscle dysfuncti
60 nd in patients with late-onset, intermediate MSUD.
61                        SAD-4, like all known MSUD proteins, localizes in the perinuclear region of th
62 milar among transplanted and nontransplanted MSUD patients.
63 ar region, suggesting that it is a center of MSUD activity.
64  prenatal diagnosis and carrier detection of MSUD in this group.
65                      Although inheritance of MSUD adheres to rules for single-gene traits, mutations
66                             The pathology of MSUD has been attributed mainly to BCAA accumulation, bu
67  and their corresponding BCKA in a subset of MSUD patients and studies of its long-term efficacy are
68  the effect of phenylbutyrate in a subset of MSUD patients.
69           Nevertheless, at least a subset of MSUD proteins must be present inside the nucleus, as unp
70                 Galactose supplementation of MSUD patients significantly increased their UDPgalactose
71 est that the region contains a suppressor of MSUD.
72 residual enzyme activity, while treatment of MSUD cells resulted in the variable response which did n
73 opment and is shown to colocalize with other MSUD proteins in the perinuclear region.
74 t Neurospora mutant, Sad-1, fails to perform MSUD.
75            Psychiatric illness is a reported MSUD complication, but has not been well characterized a
76 ke those of Sad-1, are dominant and suppress MSUD.
77 for either of the killer haplotypes suppress MSUD even though ascospores are not killed.
78 tivation of either sad-1 or sad-2 suppresses MSUD.
79                       We have now shown that MSUD is also suppressed by either of two Spore killer st
80  full-length mutant E2 is diagnostic of this MSUD phenotype.
81  This homozygous-fertile phenotype uncouples MSUD from sexual development and allows us to demonstrat
82 a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating pren
83 large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi
84             We show that young patients with MSUD or PKU have decreased average RBC UDPgalactose conc
85                            Six patients with MSUD were also supplemented with 19 g galactose/d and th
86 entified in seven unrelated AJ patients with MSUD.

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