Organic Acidurias
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54

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Published By Springer Netherlands

9789401089753, 9789400956124

Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Medium Chain Acyl-CoA Dehydrogenase Deficiency: Apparent K m and V max Values for Fibroblast Acyl-CoA Dehydrogenase towards Octanoyl CoA in Patient and Control Cell Lines

Organic Acidurias ◽

10.1007/978-94-009-5612-4_27 ◽

1984 ◽

pp. 105-106

Author(s):

N. Gregersen ◽

S. Kølvraa

Keyword(s):

Cell Lines ◽

Dehydrogenase Deficiency ◽

Control Cell ◽

Medium Chain ◽

Chain Acyl ◽

And Control

Type Ib Glycogen Storage Disease: An In Vivo and In Vitro Study of Two Cases

Organic Acidurias ◽

10.1007/978-94-009-5612-4_48 ◽

1984 ◽

pp. 147-148

Author(s):

G. Baussan ◽

N. Moatti ◽

M. Brivet ◽

A. Lemonnier

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

In Vitro Study ◽

Glycogen Storage ◽

Vitro Study

Prolidase Deficiency: Detection of Cases by a Newborn Urinary Screening Programme

Organic Acidurias ◽

10.1007/978-94-009-5612-4_47 ◽

1984 ◽

pp. 145-146

Author(s):

B. Lemieux ◽

C. Auray-Blais ◽

R. Giguere ◽

D. Shapcott

Keyword(s):

Screening Programme ◽

Prolidase Deficiency ◽

Urinary Screening

Complementation between Argininosuccinate Synthetase-deficient and Argininosuccinate Lyase-deficient Fibroblasts Depends on Intercellular Communication

Organic Acidurias ◽

10.1007/978-94-009-5612-4_45 ◽

1984 ◽

pp. 141-142

Author(s):

J. S. Davidson ◽

E. H. Harley

Keyword(s):

Intercellular Communication ◽

Argininosuccinate Synthetase ◽

Argininosuccinate Lyase

L-Glyceric Aciduria (Primary Hyperoxaluria Type 2) in Siblings in Two Unrelated Families

Organic Acidurias ◽

10.1007/978-94-009-5612-4_41 ◽

1984 ◽

pp. 133-134 ◽

Cited By ~ 2

Author(s):

R. A. Chalmers ◽

B. M. Tracey ◽

J. Mistry ◽

K. D. Griffiths ◽

A. Green ◽

...

Keyword(s):

Primary Hyperoxaluria ◽

Primary Hyperoxaluria Type ◽

Hyperoxaluria Type

Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency

Organic Acidurias ◽

10.1007/978-94-009-5612-4_34 ◽

1984 ◽

pp. 119-120

Author(s):

M. Di Rocco ◽

A. Superti-Furga ◽

P. Durand ◽

R. Cerone ◽

C. Romano ◽

...

Keyword(s):

Cerebrospinal Fluid ◽

Organic Acid ◽

Biotinidase Deficiency

4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. III. Enzymology and Inheritance

Organic Acidurias ◽

10.1007/978-94-009-5612-4_21 ◽

1984 ◽

pp. 95-96

Author(s):

K. M. Gibson ◽

I. Jansen ◽

L. Sweetman ◽

W. L. Nyhan ◽

D. Rating ◽

...

Keyword(s):

Inborn Error ◽

Inborn Error Of Metabolism

Pyruvate Carboxylase Deficiency

Organic Acidurias ◽

10.1007/978-94-009-5612-4_16 ◽

1984 ◽

pp. 74-78

Author(s):

K. Bartlett ◽

H. K. Ghneim ◽

J.-H. Stirk ◽

G. Dale ◽

K. G. M. M. Alberti

Keyword(s):

Pyruvate Carboxylase ◽

Pyruvate Carboxylase Deficiency

Lactic Acidaemia

Organic Acidurias ◽

10.1007/978-94-009-5612-4_15 ◽

1984 ◽

pp. 69-73

Author(s):

B. H. Robinson ◽

W. G. Sherwood

Keyword(s):

Lactic Acidaemia

Biotin-responsive Multiple Carboxylase Deficiency (MCD): Deficient Biotinidase Activity Associated with Renal Loss of Biotin

Organic Acidurias ◽

10.1007/978-94-009-5612-4_36 ◽

1984 ◽

pp. 123-125

Author(s):

E. R. Baumgartner ◽

T. Suormala ◽

H. Wick ◽

J. P. Bonjour

Keyword(s):

Multiple Carboxylase Deficiency ◽

Biotinidase Activity