Volume 15; Issue 6

Journal of Inherited Metabolic Disease

Volume 15; Issue 6

1

X-linked pyruvate dehydrogenase E1α subunit deficiency in heterozygous females: Variable manifestation of the same mutation

H-H. M. Dahl, L. L. Hansen, R. M. Brown, D. M. Danks, J. G. Rogers, G. K. Brown

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 1.45 MB

english, 1992

2

Mutation of E1α gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein

M. Ito, A. H. M. M. Huq, E. Naito, T. Saijo, E. Takeda, Y. Kuroda

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 885 KB

english, 1992

3

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome

P. T. Clayton, B. G. Winchester, G. Keir

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 420 KB

english, 1992

4

Autoimmune thyroiditis in a case of tyrosinaemia type III

P. D'Eufemia, O. Giardini, A. Cantani, F. Martino, R. Finocchiaro

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 158 KB

english, 1992

5

Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

C. Bannwart, B. Wermuth, R. Baumgartner, T. Suormala, U. N. Wiesmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 509 KB

english, 1992

6

Book review

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 86 KB

english, 1992

7

Glycogen debranching enzyme deficiency: Long-term study of serum enzyme activities and clinical features

R. A. Coleman, H. S. Winter, B. Wolf, Y. -T. Chen

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 1.55 MB

english, 1992

8

Hereditary xanthinuria and Ehlers-Danlos syndrome

B. Roca, C. Calabuig, J. Sastre, M. Arenas

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 147 KB

english, 1992

9

Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts

S. E. Olpin, N. J. Manning, K. Carpenter, B. Middleton, R. J. Pollitt

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 668 KB

english, 1992

10

Tryptophan and serotonin metabolism in familial erythrophagocytic lymphohistiocytosis

D. W. Howells, K. Hyland, I. Smith, S. Strobel

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 497 KB

english, 1992

11

Long-term effects of bone marrow transplantation on lysosomal enzyme replacement in β-glucuronidase-deficient mice

G. Bou-Gharios, G. Adams, P. Pace, I. Olsen

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 993 KB

english, 1992

12

Book review

G. T. N. Besley

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 71 KB

english, 1992

13

Bone marrow transplantation for Sanfilippo disease type B

A. Vellodi, E. Young, M. New, C. Pot-Mees, K. Hugh-Jones

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 1.04 MB

english, 1992

14

Adrenoleukodystrophy: phenotypic variability and implications for therapy

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 71 KB

english, 1992

15

Bone marrow transplantation for Niemann-Pick Type IA disease

E. Bayever, N. Kamani, P. Ferreira, G. A. Machin, M. Yudkoff, K. Conard, M. Palmieri, J. Radcliffe, D. A. Wenger, C. S. August

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 848 KB

english, 1992

16

Carotenaemia with low vitamin A levels and low retinol-binding protein

S. Attard-Montalto, N. Evans, R. A. Sherwood

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 152 KB

english, 1992

17

Rhizomelic chondrodysplasia punctata — A new clinical variant

R. G. F. Gray, A. Green, S. Chapman, C. McKeown, R. B. H. Schutgens, R. J. A. Wanders

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 156 KB

english, 1992

18

Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy

J. C. Haworth, L. E. Seargeant, L. A. Dilling

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 146 KB

english, 1992

19

Thyrotoxic periodic paralysis in a Saudi Arab

R. B. Johnson, M. N. Hoque

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 132 KB

english, 1992

20

5-Oxoprolinuria due to glutathione synthetase deficiency

R. Kumar Pejaver, A. H. Watson

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 145 KB

english, 1992

21

Oral vitamin B12treatment of cobalamin-responsive methylmalonic aciduria

T. K. Ninan, H. Thom, G. Russell

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 166 KB

english, 1992

22

Estimates of uridine diphosphate glucose in human erythrocytes

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 172 KB

english, 1992

23

D-Glyceric aciduria: new development

C. Largillière, M. Fontaine, C. Jakobs, J. F. Lemaitre

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 53 KB

english, 1992

24

Selective killing of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts

R. Petrova-Benedict, J. R. Buncic, D. C. Wallace, B. H. Robinson

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 181 KB

english, 1992

25

Methylmalonic aciduria and sudden child death

F. A. J. T. M. van den Bergh, H. del Canho, M. Duran

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 175 KB

english, 1992

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