Works matching IS 03785866 AND DT 1991 AND VI 13 AND IP 4/5

Results: 33

Introduction.

Published in:: Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 185, doi. 10.1159/000112157
Publication type:: Article

Phenotypic Consequences of Low Arylsulfatase A Genotypes (ASAp/ASAp and ASA-/ASAp): Does There Exist an Association with Multiple Sclerosis?

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 228, doi. 10.1159/000112165

By:

Kappler, Joachim;
Pötter, Werner;
Gieselmann, Volkmar;
Kiessling, Wolfgang;
Friedl, Waltraut;
Propping, Peter

Publication type:

Article

Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 232, doi. 10.1159/000112166

By:

Kolodny, Edwin H.;
Raghavan, Srinivasa;
Krivit, William

Publication type:

Article

Symptomatology of Late Onset Krabbe's Leukodystrophy: The European Experience.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 240, doi. 10.1159/000112167

By:

Lyon, G.;
Hagberg, B.;
Evrard, Ph.;
Allaire, C.;
Pavone, L.;
Vanier, M.

Publication type:

Article

Title Page / Table of Contents.

Published in:: Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 181, doi. 10.1159/000112156
Publication type:: Article

Molecular Genetics of Metachromatic Leukodystrophy.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 222, doi. 10.1159/000112164

By:

Gieselmann, V.;
Polten, A.;
Kreysing, J.;
Kappler, J.;
Fluharty, A.;
von Figura, K.

Publication type:

Article

The First Alzheimer Disease Case: A Metachromatic Leukodystrophy?

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 186, doi. 10.1159/000112158

By:

Amaducci, Luigi;
Sorbi, Sandro;
Piacentini, Silvia;
Bick, Katherine L.

Publication type:

Article

Diagnosis and Pathogenesis of Late-Onset Genetic Metabolic Encephaloneuromyopathies.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 188, doi. 10.1159/000112159

By:

Federico, A.

Publication type:

Article

Biochemical Basis of Late-Onset Neurolipidoses.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 197, doi. 10.1159/000112160

By:

Conzelmann, E.;
Sandhoff, K.

Publication type:

Article

Neuropathology of Late Onset Gangliosidoses.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 205, doi. 10.1159/000112161

By:

Suzuki, Kinuko

Publication type:

Article

Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 211, doi. 10.1159/000112162

By:

Baumann, N.;
Masson, M.;
Carreau, V.;
Lefevre, M.;
Herschkowitz, N.;
Turpin, J.C.

Publication type:

Article

Pseudodeficiencies of Arylsulfatase A and Galactocerebrosidase Activities.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 216, doi. 10.1159/000112163

By:

Wenger, D.A.;
Louie, E.

Publication type:

Article

Leuko-Araiosis.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 245, doi. 10.1159/000112168

By:

Verny, M.;
Duyckaerts, C.;
Pierot, L.;
Hauw, J.-J.

Publication type:

Article

Cognitive Function in Adult Adrenoleukodystrophy: Comparison with Leukoaraiosis and Multiple Sclerosis.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 251, doi. 10.1159/000112169

By:

Lyon-Caen, O.;
Benoit, N.;
Carreau, V.;
Montreuil, M.;
Menage, P.;
Lubetzki, C.;
Cabanis, E.;
Iba-Zizen, M.T.;
Tourbah, A.;
Baumann, N.

Publication type:

Article

Clinical Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 254, doi. 10.1159/000112170

By:

Moser, Hugo W.;
Moser, Ann B.;
Naidu, Sakkubai;
Bergin, Ann

Publication type:

Article

Peroxisomal Fatty Acid β-Oxidation in Relation to Adrenoleukodystrophy.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 262, doi. 10.1159/000112171

By:

Wanders, Ronald J.A.;
Tager, Joseph M.

Publication type:

Article

Schilder's Diffuse Sclerosis.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 267, doi. 10.1159/000112172

By:

Martin, J.-J.;
Guazzi, G.-C.

Publication type:

Article

Experience on Therapy of Adrenoleukodystrophy and Adrenomyeloneuropathy.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 274, doi. 10.1159/000112173

By:

Uziel, Graziella;
Bertini, Enrico;
Bardelli, Patrizia;
Rimoldi, Marco;
Gambetti, Monica

Publication type:

Article

The Clinical Aspects of Adult Hexosaminidase Deficiencies.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 280, doi. 10.1159/000112174

By:

Federico, A.;
Palmeri, S.;
Malandrini, A.;
Fabrizi, G.;
Mondelli, M.;
Guazzi, G.C.

Publication type:

Article

Biochemical and Molecular Aspects of Late-Onset GM2-Gangliosidosis: B1 Variant as a Prototype.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 288, doi. 10.1159/000112175

By:

Suzuki, Kunihiko;
Vanier, Marie T.

Publication type:

Article

Molecular and Clinical Heterogeneity of Adult GM2 Gangliosidosis.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 295, doi. 10.1159/000112200

By:

Navon, Ruth

Publication type:

Article

Clinical and Molecular Heterogeneity in Hereditary β-Galactosidase Deficiency.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 299, doi. 10.1159/000112201

By:

Suzuki, Yoshiyuki;
Sakuraba, Hitoshi;
Oshima, Akihiro;
Yoshida, Kunihiro;
Shimmoto, Michie;
Takano, Takako;
Fukuhara, Yukiko

Publication type:

Article

Clinical Aspects of Niemann-Pick Type C Disease in the Adult.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 304, doi. 10.1159/000112177

By:

Turpin, J.C.;
Masson, M.;
Baumann, N.

Publication type:

Article

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 307, doi. 10.1159/000112178

By:

Vanier, Marie T.;
Rodriguez-Lafrasse, Claire;
Rousson, Robert;
Duthel, Sylvie;
Harzer, Klaus;
Pentchev, Peter G.;
Revol, André;
Louisot, Pierre

Publication type:

Article

Type C Niemann-Pick Disease: Use of Hydrophobic Amines to Study Defective Cholesterol Transport.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 315, doi. 10.1159/000112179

By:

Roff, Calvin F.;
Goldin, Ehud;
Comly, Marcella E.;
Cooney, Adele;
Brown, Anthony;
Vanier, Marie T.;
Miller, Stephen P.F.;
Brady, Roscoe O.;
Pentchev, Peter G.

Publication type:

Article

Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis).

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 320, doi. 10.1159/000112180

By:

Federico, A.;
Battistini, S.;
Ciacci, G.;
de Stefano, N.;
Gatti, R.;
Durand, P.;
Guazzi, G.C.

Publication type:

Article

Sialic Acid Storage Disorders: Observations on Clinical and Biochemical Variation.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 327, doi. 10.1159/000112181

By:

Mancini, Grazia M. S.;
Verheijen, Frans W.;
Beerens, Cecile E. M. T.;
Renlund, Martin;
Aula, Pertti

Publication type:

Article

Adult Type of Neuronal Ceroid Lipofuscinosis.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 331, doi. 10.1159/000112182

By:

Martin, J.-J.

Publication type:

Article

Recent Biochemical and Genetic Advances in Our Understanding of Batten's Disease (Ceroid-Lipofuscinosis).

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 339, doi. 10.1159/000112183

By:

Hall, Nicholas A.;
Lake, Brian D.;
Patrick, A. Desmond

Publication type:

Article

Norrbottnian Type of Gaucher Disease - Clinical, Biochemical and Molecular Biology Aspects: Successful Treatment with Bone Marrow Transplantation.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 345, doi. 10.1159/000112184

By:

Svennerholm, Lars;
Erikson, Anders;
Groth, Carl Gustav;
Ringdén, Olle;
Månsson, Jan-Eric

Publication type:

Article

Molecular Aspects of Gaucher Disease.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 352, doi. 10.1159/000112185

By:

Levy, Hanna;
Or, Avi;
Eyal, Nurit;
Wilder, Sylvia;
Widgerson, Meir;
Kolodny, Edwin H.;
Zimran, Ari;
Horowitz, Mia

Publication type:

Article

Biochemical Abnormalities in Cerebrotendinous Xanthomatosis.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 363, doi. 10.1159/000112186

By:

Salen, Gerald;
Shefer, Sarah;
Berginer, Vladimir

Publication type:

Article

Cerebrotendinous Xanthomatous as a Multisystem Disease Mimicking Premature Ageing.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 371, doi. 10.1159/000112187

By:

Dotti, Maria Teresa;
Salen, Gerald;
Federico, Antonio

Publication type:

Article

Works matching IS 03785866 AND DT 1991 AND VI 13 AND IP 4/5

Introduction.

Phenotypic Consequences of Low Arylsulfatase A Genotypes (ASAp/ASAp and ASA<sup>-</sup>/ASAp): Does There Exist an Association with Multiple Sclerosis?

Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases.

Symptomatology of Late Onset Krabbe's Leukodystrophy: The European Experience.

Title Page / Table of Contents.

Molecular Genetics of Metachromatic Leukodystrophy.

The First Alzheimer Disease Case: A Metachromatic Leukodystrophy?

Diagnosis and Pathogenesis of Late-Onset Genetic Metabolic Encephaloneuromyopathies.

Biochemical Basis of Late-Onset Neurolipidoses.

Neuropathology of Late Onset Gangliosidoses.

Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach.

Pseudodeficiencies of Arylsulfatase A and Galactocerebrosidase Activities.

Leuko-Araiosis.

Cognitive Function in Adult Adrenoleukodystrophy: Comparison with Leukoaraiosis and Multiple Sclerosis.

Clinical Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy.

Peroxisomal Fatty Acid β-Oxidation in Relation to Adrenoleukodystrophy.

Schilder's Diffuse Sclerosis.

Experience on Therapy of Adrenoleukodystrophy and Adrenomyeloneuropathy.

The Clinical Aspects of Adult Hexosaminidase Deficiencies.

Biochemical and Molecular Aspects of Late-Onset GM2-Gangliosidosis: B1 Variant as a Prototype.

Molecular and Clinical Heterogeneity of Adult G<sub>M</sub><sub>2</sub> Gangliosidosis.

Clinical and Molecular Heterogeneity in Hereditary β-Galactosidase Deficiency.

Clinical Aspects of Niemann-Pick Type C Disease in the Adult.

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity.

Type C Niemann-Pick Disease: Use of Hydrophobic Amines to Study Defective Cholesterol Transport.

Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis).

Sialic Acid Storage Disorders: Observations on Clinical and Biochemical Variation.

Adult Type of Neuronal Ceroid Lipofuscinosis.

Recent Biochemical and Genetic Advances in Our Understanding of Batten's Disease (Ceroid-Lipofuscinosis).

Norrbottnian Type of Gaucher Disease - Clinical, Biochemical and Molecular Biology Aspects: Successful Treatment with Bone Marrow Transplantation.

Molecular Aspects of Gaucher Disease.

Biochemical Abnormalities in Cerebrotendinous Xanthomatosis.

Cerebrotendinous Xanthomatous as a Multisystem Disease Mimicking Premature Ageing.