(Q38537006)

3 September 2017

1 reference

title

Metabolic tapetoretinal degenerations (English)

1 reference

3 September 2017

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

22 August 2023

author name string

J. François

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6180492

22 August 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6180492

22 August 2023

publication date

1 May 1982

1 reference

full work available at URL

3 September 2017

https://api.elsevier.com/content/article/PII:0039625782901242?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

https://api.elsevier.com/content/article/PII:0039625782901242?httpAccept=text/plain

22 August 2023

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

22 August 2023

published in

Survey of Ophthalmology

1 reference

3 September 2017

volume

26

1 reference

3 September 2017

issue

6

1 reference

3 September 2017

page(s)

293-333

1 reference

Electrophysiological and psychophysical findings in Hunter syndrome.

3 September 2017

cites work

2

1 reference

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Phytanic acid in Refsum's syndrome

22 August 2023

4

1 reference

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Ocular lesions related to disturbances in fat metabolism

22 August 2023

6

1 reference

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Amino-acid metabolism and liver ultrastructure in hyperornithinemia with gyrate atrophy of the choroid and retina

22 August 2023

12

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Kearns syndrome or Kearns disease. Further evidence of a genuine entity in a case with uncommon features

22 August 2023

19

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Family Cerebral Degeneration with Macular Changes

22 August 2023

22

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Refsum's syndrome with corneal involvement

22 August 2023

23

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Juvenile amaurotic idiocy (neuronal ceroid lipofuscinosis) and lymphocyte fingerprint profiles

22 August 2023

24

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

22 August 2023

Ceroid Lipofuscinosis

25

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

A-BETA-LIPOPROTEINAEMIA (BASSEN-KORNZWEIG SYNDROME): REPORT OF A CASE.

22 August 2023

26

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

22 August 2023

30

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Plasma amino-acids in hereditary retinal disease. Ornithine, lysine, and taurine

22 August 2023

34

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina

22 August 2023

35

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ocular findings in patients with gyrate atrophy on pyridoxine and low-protein, low-arginine diets

22 August 2023

36

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ornithinemia, additional disorder of amino acid metabolism with brain damage

22 August 2023

39

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[Contribution to the "Refsum's syndrome" retinopathia pigmentosa in hereditary enzymopathy of lipid metabolism]

22 August 2023

40

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The lipidoses and the central nervous system.

22 August 2023

50

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

A dominant form of neuronal ceroid-lipofuscinosis

22 August 2023

53

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[A- -lipoproteinaemia in three siblings]

22 August 2023

54

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ceroid-lipofuscinosis (Batten's disease). First ophthalmological report of cytoplasmic inclusions in the Schwann's cell of the sural nerve in two patients with an amaurotic familial idiocy

22 August 2023

57

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Some patients with cerebro-macular degeneration in the cadre of Batten's disease

22 August 2023

58

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Electroretinography in cases of night blindness

22 August 2023

60

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[Fuchs retinal and choroidal gyrated atrophy, appearing in a family with retinitis pigmentosa]

22 August 2023

61

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Corneal dystrophy in Cockayne's syndrome

22 August 2023

66

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Retinitis pigmentosa associated with cystinuria; two uncommon inherited conditions occurring in a family

22 August 2023

67

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Congenital β-lipoprotein deficiency

22 August 2023

68

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy

22 August 2023

71

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Eleven-CIS vitamin A in the treatment of retinitis pigmentosa. A negative study

22 August 2023

73

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Dwarfism with retinal atrophy and deafness

22 August 2023

76

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Dwarfism with Retinal Atrophy and Deafness

22 August 2023

77

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

RETINAL INVOLVEMENT WITH RETICULOENDOTHELIOSIS OF UNCLASSIFIED TYPE.

22 August 2023

78

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The sphingolipidoses and the eye.

22 August 2023

79

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ocular manifestations of Cockayne's syndrome

22 August 2023

80

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The electroretinogram in infantile, late infantile, and juvenile amaurotic family idiocy

22 August 2023

82

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Familial homozygous hypobetalipoproteinemia.

22 August 2023

83

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Cockayne's syndrome: case report

22 August 2023

84

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Cockayne's syndrome and emphysema

22 August 2023

86

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain

22 August 2023

91

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins

22 August 2023

92

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency

22 August 2023

96

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The myoclonic variants of familial amaurotic idiocy

22 August 2023

97

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia

22 August 2023

99

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

22 August 2023

adult Refsum disease

101

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Late infantile amaurotic idiocy with multilamellar cytosomes: an electron microscopic study.

22 August 2023

106

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Juvenile Type of Generalized Ceroid-Lipofuscinosis (Spielmeyer-Sjögren Syndrome) – I. Clinical findings

22 August 2023

107

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport

22 August 2023

113

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

22 August 2023

A-BETA-LIPOPROTEINAEMIA.

116

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

HEREDITARY CHORIO-RETINAL DEGENERATIONS AND METABOLIC DISTURBANCES

22 August 2023

121

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ocular manifestations of inborn errors of carbohydrate and lipid metabolism

22 August 2023

123

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate Atrophy of the Choroid and Retina

22 August 2023

125

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[Ocular manifestations of the Urbach-Wiethe Syndrome. Hyalitis of the skin and the mucosa]

22 August 2023

126

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[Conductors of the gene of Fuchs' atrophia gyrata chorioideae et retinae (Alder's anomaly)]

22 August 2023

127

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

On the gene-carriers of Fuchs' atrophia gyrata chorioideae et retinae

22 August 2023

128

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[Electro-retino-encephalography in Hurler's disease]

22 August 2023

132

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Refsum's disease. A clinical and pathological report.

22 August 2023

136

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Cockayne's syndrome: Report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone

22 August 2023

138

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Associated with Decreased Carbamyl Phosphate Synthetase I Activity

22 August 2023

142

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

GYRATE ATROPHY OF CHOROID AND RETINA

22 August 2023

144

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Electroretinography and Fundus Oculi Findings in Hurler's Disease and Allied Mucopolysaccharidoses

22 August 2023

145

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Lysine in treatment of hyperornithinemia

22 August 2023

146

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The fine structure of the retina in neuronal ceroid-lipofuscinosis.

22 August 2023

148

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

A review of selected inherited corneal dystrophies associated with systemic diseases

22 August 2023

150

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ocular histopathology in Hunter's syndrome. Systemic mucopolysaccharidosis type II

22 August 2023

151

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Cytoplasmic inclusions in juvenile amaurotic idiocy

22 August 2023

154

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Refsum's syndrome; heredopathia atactica polyneuritiformis; a report of three cases, including a study of the cardiac pathology.

22 August 2023

156

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Kearns' syndrome (author's transl)

22 August 2023

164

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Late infantile amaurotic idiocy (LIAI). Anatomochemical report of a case

22 August 2023

165

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Late infantile progressive encephalopathy with disturbed poly-unsaturated fat metabolism

22 August 2023

166

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[Diffuse symmetric calcification in a syndrome including microcephaly and meningoencephalitis]

22 August 2023

168

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies

22 August 2023

169

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Refsum's disease. Eye manifestations in a patient treated with low phytol low phytanic acid diet

22 August 2023

171

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6.

22 August 2023

172

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Refsum's disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes.

22 August 2023

179

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Hyperornithinaemia with Gyrate Atrophy of the Choroid and Retina in two Siblings

22 August 2023

182

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

An unusual case of gargoylism

22 August 2023

187

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Atypical retinitis pigmentosa, acanthrocytosis, and heredodegenerative neuromuscular disease

22 August 2023

195

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Clinical, social and biochemical studies on Batten's syndrome, alias Spielmeyer-Vogot or Stengel's Syndrome

22 August 2023

200

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Hurler/Scheie phenotype. Report of an inbred sibship with tapeto-retinal degeneration and electron-microscopie examination of the conjuctiva

22 August 2023

201

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Familial idiocy due to neuronal lipidosis (so-called late amaurotic idiocy)

22 August 2023

203

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet

22 August 2023

206

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Visual results of a long-term trial of a low-arginine diet in gyrate atrophy of choroid and retina

22 August 2023

207

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Systemic manifestations of gyrate atrophy of the choroid and retina

22 August 2023

208

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Clinical and biochemical heterogeneity in gyrate atrophy

22 August 2023

209

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

A Specific Enzyme Defect in Gyrate Atrophy

22 August 2023

210

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Retinol-binding protein: the transport protein for vitamin A in human plasma

22 August 2023

211

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin

22 August 2023

212

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Environmental Health Theme of First NYAS Science Week

22 August 2023

214

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

22 August 2023

216

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts

22 August 2023

218

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6

22 August 2023

219

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Cockayne syndrome: an atypical case

22 August 2023

220

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ornithine-ketoacid aminotransferase in human liver with reference to patients with hyperornithinaemia and familial protein intolerance

22 August 2023

221

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

A-beta-lipoproteinaemia and colour-blindness

22 August 2023

222

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies

22 August 2023

224

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDR

22 August 2023

225

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Chronic progressive external ophthalmoplegia: association with retinal pigmentary changes and evidence in favor of ocular myopathy

22 August 2023

226

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ocular manifestations of the mucopolysaccharidoses

22 August 2023

227

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Bassen-Kornzweig syndrome. Present status

22 August 2023

230

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Retinitis pigmentosa, acanthrocytosis, and heredodegenerative neuromuscular disease

22 August 2023

231

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Classification of the Choroidal Atrophies

22 August 2023

234

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The transport of vitamin A and carotenoids in human plasma

22 August 2023

235

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Experimental model of gyrate atrophy in animals

22 August 2023

239

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Further electroretinographic studies of patients with mucopolysaccharidoses

22 August 2023

245

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ceroid accumulation in a patient with progressive neurological disease

22 August 2023

246

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Pigmentary retinopathy associated with metabolic defects

22 August 2023

248

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ocular Findings in Niemann-Pick Disease

22 August 2023

252

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gargoylism; study of pathologic lesions and clinical review of 12 cases

22 August 2023

253

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Hereditary renal dysplasia and blindness

22 August 2023

254

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case

22 August 2023

255

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

22 August 2023

258

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

22 August 2023

abetalipoproteinemia

260

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Retinal histology in amaurotic idiocies and tapeto-retinal degenerations

22 August 2023

261

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Familial hypo-beta-lipoproteinemia: a genetic disorder of lipid metabolism with nervous system involvement

22 August 2023

267

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Hyperornithinemia and gyrate atrophy of the choroid and retina

22 August 2023

270

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate Atrophy of the Choroid and Retina with Hyperornithinemia

22 August 2023

271

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS

22 August 2023

276

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The cerebroretinal degenerations.

22 August 2023

277

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

The neuropathy of abetalipoproteinemia

22 August 2023

281

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Peripheral neuropathy in Cockayne's syndrome

22 August 2023

282

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Vitamin E therapy in abetalipoproteinaemia

22 August 2023

286

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

A syndrome resembling progeria: A review of two cases

22 August 2023

288

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE)

22 August 2023

290

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina

22 August 2023

293

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Assay of ornithine aminotransferase by high-performance liquid chromatography

22 August 2023

294

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate Atrophy of the Retina: Inborn Error of L-Ornithin:2-Oxoacid Aminotransferase

22 August 2023

295

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis

22 August 2023

296

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of choroid and retina and inverse retinitis pigmentosa in the same patient

22 August 2023

297

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Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria

22 August 2023

298

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.

22 August 2023

300

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Ocular and genetic features of Cockayne's syndrome

22 August 2023

305

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Kearns-Sayre syndrome and hypoparathyroidism

22 August 2023

306

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An atypical case of Cockayne's syndrome

22 August 2023

308

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Leukocyte peroxidase in Spielmeyer-Vogt's disease

22 August 2023

311

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

22 August 2023

Nephropathic Cystinosis

316

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Heredopathia atactica polyneuritiformis

22 August 2023

317

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Early childhood cerebral lipidosis with prominent myoclonus. Ultrastructural and histochemical studies of a cerebral biopsy

22 August 2023

325

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Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid formal genetics.

22 August 2023

328

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Gyrate Atrophy of Choroid Associated with Hyperornithinaemia: Report of the First Case in Italy

22 August 2023

330

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Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-oh-prolinuria

22 August 2023

334

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

22 August 2023

Amaurotic idiocy

336

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Cockayne's syndrome. Report of case with necropsy findings

22 August 2023

337

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Lipofuscin (ceroid) storage disease of the brain neuropathological and neurochemical studies.

22 August 2023

338

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

ATROPHIA GYRATA CHOROIDEAE ET RETINAE.

22 August 2023

339

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22 August 2023

340

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On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea

22 August 2023

341

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Cystinosis. A clinical, histopathologic, and ultrastructural study

22 August 2023

342

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Batten-Spielmeyer-Vogt's disease

22 August 2023

343

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Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients

22 August 2023

344

1 reference

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Hereditary nephritis, retinitis pigmentosa and chromosomal abnormalities

22 August 2023

347

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Hereditary Renal-Retinal Dysplasia

22 August 2023

350

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Juvenile Type of Generalized Ceroid-Lipofuscinosis (Spielmeyer-Sjögren Syndrome) – II. Biopsy findings

22 August 2023

354

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Hyalinosis Cutis Et Mucosae (Lipoid Proteinosis)

22 August 2023

355

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Retinal functions in Niemann-Pick lipidosis. Ophthalmological aspects of the chronic form of sphyngomyelin lipidosis

22 August 2023

357

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[Late infantile amaurotic idiocy]

22 August 2023

361

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

22 August 2023

363

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A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics

22 August 2023

369

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Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy

22 August 2023

370

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Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

22 August 2023

371

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Inhibition of arginine-glycine amidinotransferase by ornithine. A possible mechanism for the muscular and chorioretinal atrophies in gyrate atrophy of the choroid and retina with hyperornithinemia

22 August 2023

373

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Supplementary creatine as a treatment for gyrate atrophy of the choroid and retina

22 August 2023

374

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Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine

22 August 2023

375

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Gyrate atrophy of the choroid and retina with hyperornithinemia: Tubular aggregates and type 2 fiber atrophy in muscle

22 August 2023

376

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DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME)

22 August 2023

379

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Electroretinographic Responses Following Vitamin A Therapy in A-Beta-Lipoproteinemia

22 August 2023

381

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Refsum's disease: nature of the enzyme defect

22 August 2023

388

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.

22 August 2023

395

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of the choroid and retina associated with hyperornithinaemia

22 August 2023

397

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of the choroid and retina associated with hyperornithinaemia

22 August 2023

398

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The natural history of gyrate atrophy of the choroid and retina

22 August 2023

399

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia

22 August 2023

400

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

A clinical report of Kearns-Sayre syndrome with the electrophysiological evaluation

22 August 2023

403

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Chemical and pathological findings in a case of late infantile amaurotic family idiocy of the Batten type

22 August 2023

410

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Ultrastructural ocular pathology of Hunter's syndrome. Systemic mucopolysaccharidosis type II

22 August 2023

413

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

An ocular pathologic study of Refsum's syndrome

22 August 2023

414

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina

22 August 2023

416

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

[The question of constitutional granulation anomalies of leukocytes in their relation to endochondral dysostosis]

22 August 2023

419

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet

22 August 2023

425

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Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an arginine-restricted diet

22 August 2023

426

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

über familiäre amaurotische Idiotie und verwandte Krankheitsbilder

22 August 2023

431

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Tocopherol therapy in acanthocytosis

22 August 2023

436

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RED-CELL AND PLASMA LIPIDS IN ACANTHOCYTOSIS

22 August 2023

438

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Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina

22 August 2023

439

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Vitamin B6 in management of gyrate atrophy of choroid and retina

22 August 2023

440

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Gyrate atrophy of the choroid and retina. Approaches to therapy

22 August 2023

441

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Ultrastructural studies in late-onset amaurotic idiocy: lymphocyte inclusions as a diagnostic marker.

22 August 2023

448

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

A-BETA-LIPOPROTEINAEMIA WITH SPECIAL REFERENCE TO THE VISUAL DEFECT

22 August 2023

450

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RETINAL NEUROPATHOLOGY OF LATE INFANTILE AMAUROTIC IDIOCY

22 August 2023

451

1 reference

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Alterations of Pigment Epithelium in Cystinosis

22 August 2023

452

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

ON SOME ANOMALOUS FORMS OF AMAUROTIC IDIOCY AND THEIR BEARING ON THE RELATIONSHIP OF THE VARIOUS TYPES.

22 August 2023

453

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

Atypical Retinitis Pigmentosa in Familial Hypobetalipoproteinemia

22 August 2023

455

1 reference

https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

FINE STRUCTURE OF THE LIPID BODIES IN JUVENILE AMAUROTIC IDIOCY

22 August 2023

459

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https://api.crossref.org/works/10.1016/0039-6257(82)90124-2

22 August 2023

Identifiers

1 reference

3 September 2017

1 reference