Literature DB >> 10864596

Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation.

R G Gray1, M A Preece, S H Green, W Whitehouse, J Winer, A Green.   

Abstract

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Year:  2000        PMID： 10864596      PMCID： PMC1737019          DOI： 10.1136/jnnp.69.1.5

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  29 in total

Review 1.  Deletions of the mitochondrial genome.

Authors:  A E Harding; S R Hammans
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Review 2.  Wilson disease in 1998: genetic, diagnostic and therapeutic aspects.

Authors:  J L Gollan; T J Gollan
Journal:  J Hepatol       Date:  1998       Impact factor: 25.083

3.  Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

Authors:  P H Arn; E R Hauser; G H Thomas; G Herman; D Hess; S W Brusilow
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Review 4.  Adult forms of metachromatic leukodystrophy: clinical and biochemical approach.

Authors:  N Baumann; M Masson; V Carreau; M Lefevre; N Herschkowitz; J C Turpin
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

Review 5.  Adult phosphorylase b kinase deficiency.

Authors:  P R Clemens; M Yamamoto; A G Engel
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Review 6.  Muscle glycogenosis.

Authors:  S W Moses
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

7.  Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern.

Authors:  P C Rowe; D Valle; S W Brusilow
Journal:  JAMA       Date:  1988-12-02       Impact factor: 56.272

8.  Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders.

Authors:  I Tein; D C De Vivo; D Ranucci; S DiMauro
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 9.  Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing.

Authors:  M T Dotti; G Salen; A Federico
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

10.  Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.

Authors:  P K Thomas; E Young; R H King
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-09       Impact factor: 10.154
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Review 2.  Spinocerebellar degenerations: an update.

Authors:  Susan L Perlman
Journal:  Curr Neurol Neurosci Rep       Date:  2002-07       Impact factor: 5.081

Review 3.  Treatable inherited rare movement disorders.

Authors:  H A Jinnah; Alberto Albanese; Kailash P Bhatia; Francisco Cardoso; Gustavo Da Prat; Tom J de Koning; Alberto J Espay; Victor Fung; Pedro J Garcia-Ruiz; Oscar Gershanik; Joseph Jankovic; Ryuji Kaji; Katya Kotschet; Connie Marras; Janis M Miyasaki; Francesca Morgante; Alexander Munchau; Pramod Kumar Pal; Maria C Rodriguez Oroz; Mayela Rodríguez-Violante; Ludger Schöls; Maria Stamelou; Marina Tijssen; Claudia Uribe Roca; Andres de la Cerda; Emilia M Gatto
Journal:  Mov Disord       Date:  2017-09-01       Impact factor: 10.338

4.  Medical students' knowledge and opinions about rare diseases: A case study from Poland.

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Journal:  Intractable Rare Dis Res       Date:  2019-11

5.  An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.

Authors:  Rita Christopher; Bindu P Sankaran
Journal:  Ann Indian Acad Neurol       Date:  2008-04       Impact factor: 1.383

6.  Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.

Authors:  Karim Gariani; Marina Nascimento; Andrea Superti-Furga; Christel Tran
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  6 in total

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