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40
3
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Text
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URL Address
<a href="http://doi.org/10.1007/s10545-005-0533-8" target="_blank" rel="noreferrer">http://doi.org/10.1007/s10545-005-0533-8</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
Publisher
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Journal Of Inherited Metabolic Disease
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Humans; Male; Prognosis; Mutation; Longitudinal Studies; Phenotype; Fibroblasts/metabolism; Lipid Metabolism; Multienzyme Complexes/deficiency; Mitochondria/pathology; Acyl-CoA Dehydrogenase; Cardiomyopathies/diagnosis/genetics; Carnitine/analogs & derivatives/metabolism; Exons; Fatty Acids/metabolism; Homozygote; Inborn Errors/diagnosis/genetics; Long-Chain/deficiency; Polyneuropathies/diagnosis/genetics; Rhabdomyolysis/diagnosis/genetics
Creator
An entity primarily responsible for making the resource
Olpin SE; Clark S; Andresen BS; Bischoff C; Olsen RK; Gregersen N; Chakrapani A; Downing M; Manning NJ; Sharrard M; Bonham JR; Muntoni F; Turnbull DN; Pourfarzam M
Description
An account of the resource
General mitochondrial trifunctional protein (TFP) deficiency leads to a wide clinical spectrum of disease ranging from severe neonatal/infantile cardiomyopathy and early death to mild chronic progressive sensorimotor poly-neuropathy with episodic rhabdomyolysis. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency resulting from the common Glu510Gln mutation usually gives rise to a moderately severe phenotype with multiorgan involvement with high morbidity and mortality. However, isolated LCHAD deficiency can also be consistent with long-term survival in patients identified and treated from an early age. We present biochemical, clinical and mutation data in 9 patients spanning the full spectrum of disease. Fibroblast acylcarnitine profiling shows good correlation with clinical phenotype using the ratio C18(OH)/(C14(OH)+C12(OH)). This ratio shows a gradation of values, from high in four patients with severe neonatal disease (2.5+/-0.8), to low in two neuromyopathic patients (0.35, 0.2). Fibroblast fatty acid oxidation flux assays also show correlation with the patient phenotype, when expressed either as percentage residual activity with palmitate or as a ratio of percentage activity of myristate/oleate (M/O ratio). Fibroblasts from four patients with severe neonatal disease gave an M/O ratio of 4.0+/-0.6 compared to 1.97 and 1.62 in two neuromyopathic patients. Specific enzyme assay of LCHAD and long-chain 3-ketothiolase activity in patient cells shows lack of correlation with phenotype. These results show that measurements in intact cells, which allow all determinative and modifying cellular factors to be present, better reflect patient phenotype. Mutation analysis reveals a number of alpha- and beta-subunit mutations. Peripheral sensorimotor polyneuropathy, often as the initial major presenting feature but usually later accompanied by episodic rhabdomyolysis, is a manifestation of mild TFP protein deficiency. The mild clinical presentation and relative difficulty in diagnosis suggest that this form of TFP is probably underdiagnosed.
2005
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s10545-005-0533-8" target="_blank" rel="noreferrer">10.1007/s10545-005-0533-8</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2005
Acyl-CoA Dehydrogenase
Andresen BS
Backlog
Bischoff C
Bonham JR
Cardiomyopathies/diagnosis/genetics
Carnitine/analogs & derivatives/metabolism
Chakrapani A
Clark S
Downing M
Exons
Fatty Acids/metabolism
Fibroblasts/metabolism
Gregersen N
Homozygote
Humans
Inborn Errors/diagnosis/genetics
Journal Article
Journal Of Inherited Metabolic Disease
Lipid Metabolism
Long-Chain/deficiency
Longitudinal Studies
Male
Manning NJ
Mitochondria/pathology
Multienzyme Complexes/deficiency
Muntoni F
Mutation
Olpin SE
Olsen RK
Phenotype
Polyneuropathies/diagnosis/genetics
Pourfarzam M
Prognosis
Rhabdomyolysis/diagnosis/genetics
Sharrard M
Turnbull DN
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/1096-8628(20010422)100:2%3C122::AID-AJMG1236%3E3.0.CO" target="_blank" rel="noreferrer">http://doi.org/10.1002/1096-8628(20010422)100:2%3C122::AID-AJMG1236%3E3.0.CO</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature
Publisher
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American Journal Of Medical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2001
Subject
The topic of the resource
Child; Humans; Male; Preschool; Non-U.S. Gov't; Research Support; Cells; Contracture/pathology; Cultured; Fibroblasts/metabolism; Hyaluronic Acid/metabolism; Hyaluronoglucosaminidase/blood; Joint Diseases/blood/congenital/radiography; Osteolysis/congenital; Proteoglycans/metabolism; Skin Diseases/blood/congenital/radiography
Creator
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Stucki U; Spycher MA; Eich G; Rossi A; Sacher P; Steinmann B; Superti-Furga A
Description
An account of the resource
A boy presented at age 3.5 months with joint contractures, restlessness, and pain on handling. His skin was thickened and there were livid-red macular lesions over bony prominences. Infantile systemic hyalinosis (ISH) was diagnosed, a presumably autosomal recessive, progressive, and painful disorder of as yet unknown pathogenesis. Observation over three years confirmed the diagnosis as typical changes, such as nodules on both ears, pearly papules in the perinasal folds and on the neck, fleshy nodules in the perianal region, and gingival hypertrophy, developed. Skin lesions and painful joint contractures progressed in spite of intense physiotherapy, and at age 3, the child had marked motor disability. The central nervous system (CNS) appeared to be intact and the infant showed normal mental development. Radiologic findings included marked generalized osteopenia, osteolytic erosions in the metaphyses of the long bones, and cortical thinning. Electron microscopy of two skin biopsies demonstrated deposition of floccular amorphous substance that was abundant around, and appeared to originate from, small blood vessels in the dermis, partially interfering with collagen fiber formation. Lysosomal inclusions were not seen. Serum acid hyaluronidase activity was within the normal range, and the synthesis of hyaluronic acid and proteoglycans in cultured skin fibroblasts was similar to that of control cells. A younger sister presented at age two months with painful joint contractures and discrete livid-red macules over both malleoli, and showed a similar progression of the disorder over the first year of life. The diagnosis of ISH should be considered in infants and children presenting with painful joint contractures and skin lesions. The pathogenesis of this disabling and disfiguring disorder remains unclear. Our data confirm probable autosomal recessive inheritance, and do not support lysosomal storage, hyaluronidase deficiency, or a primary collagen disorder, but indicate that the amorphous material accumulating in the skin and articular soft tissues may originate from the blood circulation.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/1096-8628(20010422)100:2%3C122::AID-AJMG1236%3E3.0.CO" target="_blank" rel="noreferrer">10.1002/1096-8628(20010422)100:2%3C122::AID-AJMG1236%3E3.0.CO</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2001
American Journal Of Medical Genetics
Backlog
Cells
Child
Contracture/pathology
Cultured
Eich G
Fibroblasts/metabolism
Humans
Hyaluronic Acid/metabolism
Hyaluronoglucosaminidase/blood
Joint Diseases/blood/congenital/radiography
Journal Article
Male
Non-U.S. Gov't
Osteolysis/congenital
Preschool
Proteoglycans/metabolism
Research Support
Rossi A
Sacher P
Skin Diseases/blood/congenital/radiography
Spycher MA
Steinmann B
Stucki U
Superti-Furga A
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co" target="_blank" rel="noreferrer">http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Niemann-Pick disease type C: Two cases and an update.
Publisher
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Movement Disorders: Official Journal Of The Movement Disorder Society
Date
A point or period of time associated with an event in the lifecycle of the resource
2000
Subject
The topic of the resource
Female; Humans; Male; Middle Aged; Disease Progression; Longitudinal Studies; adolescent; Age of Onset; Cholesterol/metabolism; Esterification; Diagnosis; Differential; Cells; Cultured; Fibroblasts/metabolism; Niemann-Pick Diseases/diagnosis/physiopathology; Skin/pathology
Creator
An entity primarily responsible for making the resource
Uc EY; Wenger DA; Jankovic J
Identifier
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<a href="http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co" target="_blank" rel="noreferrer">10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologically asymptomatic until his mid 30s. At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. The second patient presented with rapidly progressive dystonia at age 8, and mild hepatosplenomegaly, vertical supranuclear ophthalmoplegia, severe behavioral disorder, and dementia by age 14. The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Current notions about diagnosis and pathogenesis of NPC are reviewed.
2000
Adolescent
Age of Onset
Backlog
Cells
Cholesterol/metabolism
Cultured
Diagnosis
Differential
Disease Progression
Esterification
Female
Fibroblasts/metabolism
Humans
Jankovic J
Journal Article
Longitudinal Studies
Male
Middle Aged
Movement Disorders: Official Journal Of The Movement Disorder Society
Niemann-Pick Diseases/diagnosis/physiopathology
Skin/pathology
Uc EY
Wenger DA