Volume 11, Issue 3

Journal of Inherited Metabolic Disease is now archived and no longer receiving submissions with this publisher. All articles published in the journal during its time with Springer will remain fully searchable through our websites.

Search all Journal of Inherited Metabolic Disease articles

September 1988

29 articles in this issue

Alterations of NAD and adenylyl dinucleotide metabolism in Chediak-Higashi Syndrome fibroblasts
J. C. Baker
B. N. Ames
OriginalPaper Pages: 221 - 228
Book received

Announcement Pages: 228 - 228
Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families
D. T. Keough
R. B. Gordon
B. T. Emmerson
OriginalPaper Pages: 229 - 238
Lesch-Nyhan syndrome and its pathogenesis: Purine concentrations in plasma and urine with metabolite profiles in CSF
R. A. Harkness
G. M. McCreanor
R. W. E. Watts
OriginalPaper Pages: 239 - 252
Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI
N. Dahan
C. Baussan
A. Lemonnier
OriginalPaper Pages: 253 - 260
Homocitrullinuria and homoargininuria in hyperargininaemia
T. Kato
M. Sano
C. Hayakawa
OriginalPaper Pages: 261 - 265
Prolinase activity in prolidase-deficient fibroblasts
G. Miech
I. Myara
A. Lemonnier
OriginalPaper Pages: 266 - 269
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities
E. Holme
C-E. Jacobson
B. Kristiansson
OriginalPaper Pages: 270 - 276
Aminoacidopathies: A review of 3 years experience of investigations in a Kuwait hospital
G. C. Yadav
P. C. Reavey
OriginalPaper Pages: 277 - 284
Serotonin and noradrenaline concentrations and serotonin uptake in platelets from hyperphenylalaninaemic patients
M. Giovannini
R. Valsasina
G. B. Picotti
OriginalPaper Pages: 285 - 290
The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria
W. A. Gahl
I. Bernardini
K. Horvath
OriginalPaper Pages: 291 - 298
Excretion of phenylpyruvic, 4-hydroxyphenylpyruvic and indolyl-3-acetic acids by the skin fibroblasts from a phenylketonuric child
A. G. Antoshechkin
L. A. Zuyeva
L. A. Maximova
OriginalPaper Pages: 299 - 301
Book review
P. A. Portnoi
BookReview Pages: 302 - 302
Hepatic metabolites and uric acid excretion in fructose-1,6-diphosphatase deficiency
A. Velázquez
C. DeCéspedes
K. N. F. Shaw
Case Report Pages: 303 - 304
Glyceroluria with adrenocortical insufficiency, developmental delay and early death
O. Søvik
E. Jellum
B. Madsen
Case Report Pages: 304 - 305
Intrafamilial phenotypic variability in citrullinaemia: Report of a family
A. R. A. Issa
G. Yadav
A. S. Teebi
Case Report Pages: 306 - 307
N-Acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy
P. Divry
C. Vianey-Liaud
B. Echenne
Case Report Pages: 307 - 308
Serum arginine level in neonatal citrullinaemia
M. Matsoo
H. Takemine
T. Matsuo
Case Report Pages: 309 - 310
Folates and homocystinuria
S. Ferraris
G. Bonetti
A. Ponzone
Case Report Pages: 310 - 311
Laryngeal stridor as a leading symptom in a biotinidase-deficient patient
C. Dionisi-Vici
C. Bachmann
G. Sabetta
Case Report Pages: 312 - 313
Isovaleric acidaemia in a premature infant: Diagnosis and treatment
R. Heimler
H. Hennes
R. Matalon
Case Report Pages: 313 - 314
Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency
M. Kikuchi
J. Aikawa
K. Tada
Jsimd Meeting Pages: 315 - 318
E₂-cDNA cloning and component X of pyruvate dehydrogenase complex
S. Matuda
K. Nakano
T. Saheki
Jsimd Meeting Pages: 319 - 323
DNA deletions and recombinations in the gene locus of X-linked muscular dystrophies
M. Shimmoto
A. Tsuji
Y. Suzuki
Jsimd Meeting Pages: 324 - 328
Immunochemical evidence of pyruvate dehydrogenase (E₁) deficiency
A. Kitano
I. Akaboshi
K. Narisawa
Jsimd Meeting Pages: 329 - 332
Clinical and molecular heterogeneity in patients with mitochondrial encephalomyopathies due to complex I deficiency
T. Ichiki
M. Kobayashi
T. Ozawa
Jsimd Meeting Pages: 333 - 336
Structural organization of the human ornithine transcarbamylase gene
A. Hata
T. Tsuzuki
I. Matsuda
Jsimd Meeting Pages: 337 - 340
Successful treatment of maternal phenylketonuria with a formula consisting of low phenylalanine peptide as a protein source
M. Ōwada
M. Abe
Y. Sato
Jsimd Meeting Pages: 341 - 344
Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency
S. Yamaguchi
T. Orii
T. Hashimoto
Jsimd Meeting Pages: 345 - 347

Volume 11, Issue 3

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