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1 DS), sideroblastic anemia, and mitochondrial encephalomyopathy.
2  are usually associated with fatal infantile encephalomyopathy.
3 al infantile encephalocardiomyopathy to mild encephalomyopathy.
4 n a child who presented with infantile-onset encephalomyopathy.
5 y, she developed symptoms of a mitochondrial encephalomyopathy.
6 RNA(Leu(UUR)) gene associated with the MELAS encephalomyopathy.
7  nerve involvement and c.536_538 + 8del with encephalomyopathy.
8 scent of mitochondrial neurogastrointestinal encephalomyopathy.
9  is the most frequent cause of mitochondrial encephalomyopathies.
10 ellular respiration and produce severe human encephalomyopathies.
11 her six genes will cause similar early-onset encephalomyopathies.
12 malities in the mitochondrial myopathies and encephalomyopathies.
13 n degradation abnormalities in mitochondrial encephalomyopathies.
14 uent clinical presentation was mitochondrial encephalomyopathy (63%); however, a number of patients s
15 ment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive dise
16     We screened 41 patients with undiagnosed encephalomyopathies and cytochrome c oxidase (COX) defic
17 anisms underlying COX-mediated mitochondrial encephalomyopathies and to explore possible therapeutic
18 ed patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzym
19 es) with mitochondrial neurogastrointestinal encephalomyopathy and an average age of 32.4 years (rang
20 ween the mitochondrial neurogastrointestinal encephalomyopathy and control brains, indicating that lo
21 eria for mitochondrial neurogastrointestinal encephalomyopathy and had severe thymidine phosphorylase
22 nts with mitochondrial neurogastrointestinal encephalomyopathy and improve clinical manifestations of
23 c gene, COQ2, was identified in a child with encephalomyopathy and nephrotic syndrome and in a younge
24 ad an infantile-onset but slowly progressive encephalomyopathy and responded favorably to riboflavin
25 ons including 3243A>G, causing mitochondrial encephalomyopathy and stroke-like episodes (MELAS), and
26 boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes.
27 tility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP
28 anism in KOS, suggest that it is a metabolic encephalomyopathy, and provide an entry to targeted ther
29                                Mitochondrial encephalomyopathies are common and devastating multisyst
30                Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive
31                Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly pro
32 tal day 8, Tk2-/- mice rapidly develop fatal encephalomyopathy between postnatal days 10 and 13.
33 cial for mitochondrial neurogastrointestinal encephalomyopathy, but is associated with a high mortali
34 ia, and developmental delay caused by severe encephalomyopathy consistently associated with progressi
35                       MELAS is a multisystem encephalomyopathy disorder that can result from a hetero
36                      Mitochondrial diseases (encephalomyopathies) have traditionally been ascribed to
37  is a frequent cause of isolated myopathy or encephalomyopathy in children with mitochondrial DNA (mt
38 , and to mitochondrial neurogastrointestinal encephalomyopathy in six patients.
39 tions of mitochondrial neurogastrointestinal encephalomyopathy in the long term.
40 ly been associated with severe mitochondrial encephalomyopathy in two infants by impairing oxidative
41 rning renal involvement in the mitochondrial encephalomyopathies, including MELAS, and proposes a mec
42               Infant girl presenting with an encephalomyopathy, inspiratory stridor, ventilator failu
43          Mitochondrial neurogastrointestinal encephalomyopathy is a rare multisystemic autosomic rece
44          Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystemi
45 lated in RRFs of patients with mitochondrial encephalomyopathies; it is noteworthy that NT-4 was not
46 itochondrial cybrids harboring mitochondrial encephalomyopathy lactic acidosis and stroke A3243G tRNA
47  spectrum of diseases, notably mitochondrial encephalomyopathy lactic acidosis and stroke-like episod
48 e mitochondrial disease MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episo
49 ophic lateral sclerosis (ALS), mitochondrial encephalomyopathy, lactic acidosis and stroke-like episo
50 -like episode in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episo
51 ng a critical threshold causes mitochondrial encephalomyopathy, lactic acidosis with stroke-like epis
52 n mtDNA, m.3243A>G, underlying mitochondrial encephalomyopathy, lactic acidosis, and stroke-like epis
53 lly described in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like epis
54 u(UUR)) A3243G mutation causes mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symp
55 chondrial syndromes, including mitochondrial encephalomyopathy, lactic acidosis, and strokelike episo
56 ents who had A3243G-associated mitochondrial encephalomyopathy, lactic acidosis, and strokelike episo
57 al combination of optic atrophy, ptosis, and encephalomyopathy leading to intractable seizures.
58          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease
59          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive
60          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive diso
61          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive diso
62          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive diso
63          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive diso
64          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive huma
65          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive huma
66          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mult
67          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the
68          Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisyste
69 athy, or mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
70 gase (SCL) deficiency causes a mitochondrial encephalomyopathy of unknown pathomechanism.
71 tions are a recurrent cause of mitochondrial encephalomyopathy onset in early infancy.
72 clonic epilepsy and ragged red fiber (MERRF) encephalomyopathy or a frameshift mutation, isolated in
73 ons in complex IV subunit genes cause severe encephalomyopathies randomly associated with pleiotropic
74 ral subunit of COX that causes mitochondrial encephalomyopathy rather than lethality, whereas several
75 ated families, with a syndrome consisting of encephalomyopathy, sensorineural hearing loss, and hyper
76 favor of mitochondrial neurogastrointestinal encephalomyopathy syndrome.
77 f the aetiology of early-onset mitochondrial encephalomyopathy that is supported by analysis of a dis
78 ntrols and patients with other mitochondrial encephalomyopathies, thus fulfilling accepted criteria f
79 ses with optic atrophy such as mitochondrial encephalomyopathies, to age-related neurodegenerative di
80 nosis of mitochondrial neurogastrointestinal encephalomyopathy, together with timely treatment of acu
81 est that it is a good candidate for X-linked encephalomyopathies typically associated with mitochondr
82 ing from mitochondrial neurogastrointestinal encephalomyopathy who underwent allogeneic haematopoieti
83 DNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like e
84 europathy, Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like e
85 ultisystemic disorders such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like e
86 biopsy findings typical of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like e
87 igrees that carried either the mitochondrial encephalomyopathy with lactic acidosis and stroke-like e
88                         Melas (mitochondrial encephalomyopathy with lactic acidosis and stroke-like e