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.

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Showing 5,451-5,486 of 5,486 articles

Biochemical studies of a human low-activity galactose-1-phosphate uridyl transferase variant
W. G. Ng
F. Kline
G. N. Donnell
OriginalPaper Pages: 145 - 151
Transient B cell immaturity with intractable diarrhoea: A possible new immunodeficiency syndrome
S. O. Lie
S. Frøland
J. Steen-Johnsen
OriginalPaper Pages: 137 - 144
Biochemical and clinical studies of a new case of α-aminoadipic aciduria
R. E. Casey
W. A. Zaleski
S. L. MacKenzie
OriginalPaper Pages: 129 - 135
Osteogenesis imperfecta: Evidence for the existence of an abnormal amino acid sequence in the molecule of dermal collagen
J. G. Heathcote
Samirah Al-Alawi
OriginalPaper Pages: 123 - 128
Isolation and characterization of oligosaccharides from urine of patients with abnormal glycoconjugate metabolism
M. A. Chester
A. Lundblad
P. -A. Öckerman
OriginalPaper Pages: 119 - 121
The use of natural and artificial substrates in the prenatal diagnosis of Krabbe's disease
G. T. N. Besley
OriginalPaper Pages: 115 - 118
Diagnosis of Gaucher's disease in cultured skin fibroblasts and leucocytes
J. Butterworth
D. M. Broadhead
OriginalPaper Pages: 111 - 113
N-dicarboxylmonoglycines: Excretion in dicarboxylic acidurias and mode of formation
Ida H. Grøn
N. Gregersen
K. Rasmussen
OriginalPaper Pages: 109 - 110
Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia
M. Duran
L. Bruinvis
S. K. Wadman
OriginalPaper Pages: 105 - 107
The high frequency of phenylketonuria in Ireland and Western Scotland
L. I. Woolf
OriginalPaper Pages: 101 - 103
Birthweight of infants with phenylketonuria and their unaffected siblings
Isobel Smith
C. O. Carter
O. H. Wolff
OriginalPaper Pages: 99 - 100
Aspartylglycosaminuria in Northern Norway in eight patients: Clinical heterogeneity and variations with the diet
O. Borud
J. H. Strömme
K. H. Torp
OriginalPaper Pages: 95 - 97
Familial hyperlysinaemia due to L-lysineα-ketoglutarate reductase deficiency: Results of attempted treatment
C. v. d. Heiden
M. Brink
J. P. G. M. van Biervliet
OriginalPaper Pages: 89 - 94
A sensitive semi-automated kinetic assay of α-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease)
K. Blau
OriginalPaper Pages: 85 - 88
Non-ketotic hyperglycinaemia in a family with an unusual phenotype
T. Ando
W. L. Nyhan
J. Stern
OriginalPaper Pages: 79 - 83
Book reviews
M. H. Winterborn
D. N. Raine
BookReview Pages: 78 - 78
Cyclic adenosine monophosphate excretion in urine of patients and carriers of congenital nephrogenic diabetes insipidus
W. S. Uttley
B. Atkinson
D. Shirling
OriginalPaper Pages: 75 - 77
Anderson-fabry disease: Rapid detection of carriers by hair bulb analysis
A. Ejiofor
D. Robinson
J. M. Tager
OriginalPaper Pages: 71 - 74
Phenylketonuria in Indian children
Gertrude E. Joshua
S. Chandy
K. V. Mathai
OriginalPaper Pages: 67 - 70
The enzymes of the hepatic phenylalanine hydroxylating system
S. Kaufman
OriginalPaper Pages: 63 - 65
Metabolism and metabolic roles of 6-polyhydroxyalkylpterins
H. Rembold
OriginalPaper Pages: 61 - 62
Chemistry of dihydropterins and tetrahydropterins
W. Pfleiderer
OriginalPaper Pages: 54 - 60
Malignant hyperphenylalaninaemia—Current status (June 1977)
D. M. Danks
K. Bartholomé
F. Rey
OriginalPaper Pages: 49 - 53
Pteridines and phenylketonuria report of a workshop: Introductory comments
D. M. Danks
OriginalPaper Pages: 47 - 48
Adenosine deaminase activity in erythrocytes, lymphocytes, polymorphonuclear neutrophil leucocytes and cultured cells: A possible role in the immune response
A. Adams
R. A. Harkness
J. G. McVie
OriginalPaper Pages: 43 - 45
Appearance of active UDP-galactose 4′-epimerase in cells cultured from epimerase-deficient persons
R. Gitzelmann
E. Haigis
OriginalPaper Pages: 41 - 41
Prenatal detection of hypophosphatasia: Cytological and genetic considerations
K. Blau
J. M. Rattenbury
M. Sandler
OriginalPaper Pages: 37 - 39
Epidermolysis bullosa dystrophica: Abnormal numbers of lysosomes in cultured fibroblasts
M. W. Kanan
T. J. Ryan
W. B. Reed
OriginalPaper Pages: 35 - 35
Studies on sphingomyelinase activity in cultured cells and leucocytes
G. T. N. Besley
OriginalPaper Pages: 29 - 33
Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells
J. Butterworth
OriginalPaper Pages: 25 - 28
Mannosidosis: Tissue culture studies in relation to prenatal diagnosis
I. Maire
M. T. Zabot
M. Hermier
OriginalPaper Pages: 19 - 23
Determination of optical isomers in patients with organic aciduria
M. Duran
J. P. Kamerling
H. Przyrembel
OriginalPaper Pages: 17 - 17
Urinary organic acids in a case of congenital lactic acidosis due to pyruvate decarboxylase deficiency
R. A. Chalmers
A. M. Lawson
O. Borud
OriginalPaper Pages: 15 - 16
Glutaric aciduria in two brothers
N. J. Brandt
N. Gregersen
K. Rasmussen
OriginalPaper Pages: 13 - 14
Prenatal diagnosis and a case report of isovaleric acidaemia
M. E. Blaskovics
W. G. Ng
G. N. Donnell
OriginalPaper Pages: 9 - 11
Propionyl-CoA-carboxylase determination: Study of enzyme parameters in cultured skin fibroblasts from enzyme-deficient and normal subjects
P. Divry
M. O. Rolland
P. Guibaud
OriginalPaper Pages: 3 - 7

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