A rare case with diurnal fluctuation of head instability, hypotonia and choreoathetotic movements improved by L-dopa treatment

[1]  C. Gellera,et al.  Normalization of short‐chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathy , 1989, Annals of neurology.

[2]  O. Søvik.  Inborn Errors of Amino Acid and Fatty Acid Metabolism with Hypoglycemia as a Major Clinical Manifestation , 1989, Acta paediatrica Scandinavica.

[3]  M. Hallett,et al.  Dystonia with marked diurnal variation associated with biopterin deficiency , 1988, Neurology.

[4]  Diagnostic criteria for rett syndrome , 1988 .

[5]  H. Moser,et al.  Research on Rett Syndrome: Strategy and Preliminar Results , 1988, Journal of child neurology.

[6]  E. Brett,et al.  RETT'S SYNDROME AND ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY , 1987, The Lancet.

[7]  T. Kuhara,et al.  Gas chromatography‐mass spectrometry for chemical diagnosis of the inherited metabolic diseases—Differential chemical diagnosis of lactic acidosis , 1987 .

[8]  T. Matsuishi,et al.  Acute encephalopathy with hyperammonemia and dicarboxylic aciduria during calcium hopantenate therapy: A patient report , 1986, Brain and Development.

[9]  T. Deonna.  DOPA-Sensitive Progressive Dystonia of Childhood with Fluctuations of Symptoms - Segawa's Syndrome and Possible Variants* , 1986, Neuropediatrics.

[10]  G. Pampiglione,et al.  Progressive Neuronal Degeneration of Childhood with Liver Disease("Alpers' Disease"): Characteristic Neurophysiological Features , 1986, Neuropediatrics.

[11]  C. Stanley,et al.  Genetic Deficiency of Medium-Chain Acyl Coenzyme A Dehydrogenase: Studies in Cultured Skin Fibroblasts and Peripheral Mononuclear Leukocytes , 1985, Pediatric Research.

[12]  C. Stanley,et al.  Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency: An Inherited Cause of Nonketotic Hypoglycemia , 1985, Pediatric Research.

[13]  Y. Mano,et al.  Idiopathic dystonia‐parkinsonism with marked diurnal flucuation of symptoms , 1985, Annals of neurology.

[14]  J. Collet,et al.  DICARBOXYLIC ACIDURIA DUE TO MEDIUM CHAIN ACYL CoA DEHYDROGENASE DEFECT , 1983, Acta paediatrica Scandinavica.

[15]  Jean Aicardi,et al.  A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases , 1983, Annals of neurology.

[16]  R. Ouvrier.  Progressive dystonia with marked diurnal fluctuation , 1978, Annals of neurology.

[17]  G. Summer,et al.  Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria. , 1978, The New England journal of medicine.

[18]  C. Angelini,et al.  Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome , 1973, Science.

[19]  Y. Yamamura,et al.  Paralysis agitans of early onset with marked diurnal fluctuation of symptoms , 1973, Neurology.

[20]  S. Tanaka,et al.  Hereditary progressive dystonia with marked diurnal fluctuation--consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings. , 1988, Advances in neurology.

[21]  J. Opitz,et al.  Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. , 1986, American journal of medical genetics. Supplement.