Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia
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Published By Springer Netherlands

9789401083324, 9789400941311

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Molecular Basis of α1-Antitrypsin Deficiency and its Potential Therapy by Gene Transfer

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_8 ◽

1986 ◽

pp. 85-91

Author(s):

F. D. Ledley ◽

S. L. C. Woo

Keyword(s):

Gene Transfer ◽

Molecular Basis ◽

Antitrypsin Deficiency

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Peroxisomal Abnormalities in Rhizomelic Chondrodysplasia Punctata

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_62 ◽

1986 ◽

pp. 329-331

Author(s):

H. S. A. Heymans ◽

J. W. E. Oorthuys ◽

G. Nelck ◽

R. J. A. Wanders ◽

K. P. Dingemans ◽

...

Keyword(s):

Chondrodysplasia Punctata ◽

Rhizomelic Chondrodysplasia Punctata

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Neonatal Screening for Biotinidase Deficiency: An Update

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_55 ◽

1986 ◽

pp. 303-306 ◽

Cited By ~ 1

Author(s):

B. Wolf ◽

G. S. Heard ◽

L. G. Jefferson ◽

K. A. Weissbecker ◽

J. R. Secor McVoy ◽

...

Keyword(s):

Neonatal Screening ◽

Biotinidase Deficiency

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Decreased Affinity of Phosphorylase a for Glucose-1-phosphate in Polymorphonuclear Leukocytes of a Patient with Glycogenosis Type VI

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_51 ◽

1986 ◽

pp. 291-292

Author(s):

D. Pieniazek ◽

E. Pronicka

Keyword(s):

Polymorphonuclear Leukocytes ◽

Glycogenosis Type

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Long-term Cornstarch Therapy in Glycogen Storage Disease Types I, Ib and III

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_48 ◽

1986 ◽

pp. 280-283

Author(s):

R. Gatti ◽

G. Lamedica ◽

M. Di Rocco ◽

D. Massocco ◽

N. Marchese ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage

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A New Case of Hyperlysinaemia with Saccharopinuria

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_43 ◽

1986 ◽

pp. 265-267

Author(s):

C. Vianey-Liaud ◽

M. O. Rolland ◽

P. Divry ◽

G. Puthet ◽

M. T. Zabot ◽

...

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Plasma Amino Acid Patterns in Critically Ill Children

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_40 ◽

1986 ◽

pp. 254-256

Author(s):

A. Briddon ◽

V. G. Oberholzer

Keyword(s):

Amino Acid ◽

Critically Ill ◽

Plasma Amino Acid ◽

Critically Ill Children

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Termination of Strict Diet in Phenylketonuria: Neurophysiological, Psychological and Biochemical Studies

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_29 ◽

1986 ◽

pp. 218-222

Author(s):

A. W. Behbehani ◽

M. Vollrath ◽

I. Matschke ◽

U. Langenbeck

Keyword(s):

Biochemical Studies ◽

Strict Diet

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Maternal Phenylketonuria

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_20 ◽

1986 ◽

pp. 159-168

Author(s):

R. Koch ◽

E. Gross Friedman ◽

E. Wenz ◽

K. Jew ◽

C. Crowley ◽

...

Keyword(s):

Maternal Phenylketonuria

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Prevalence of Adrenal 21-Hydroxylase Deficiency in Neonates Born in the West Midlands: a Retrospective Study

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ◽

10.1007/978-94-009-4131-1_18 ◽

1986 ◽

pp. 155-156

Author(s):

B. T. Rudd

Keyword(s):

Retrospective Study ◽

Hydroxylase Deficiency ◽

The West ◽

West Midlands ◽

21 Hydroxylase Deficiency

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Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal HyperplasiaLatest Publications

TOTAL DOCUMENTS

H-INDEX

Published By Springer Netherlands

Molecular Basis of α1-Antitrypsin Deficiency and its Potential Therapy by Gene Transfer

Peroxisomal Abnormalities in Rhizomelic Chondrodysplasia Punctata

Neonatal Screening for Biotinidase Deficiency: An Update

Decreased Affinity of Phosphorylase a for Glucose-1-phosphate in Polymorphonuclear Leukocytes of a Patient with Glycogenosis Type VI

Long-term Cornstarch Therapy in Glycogen Storage Disease Types I, Ib and III

A New Case of Hyperlysinaemia with Saccharopinuria

Plasma Amino Acid Patterns in Critically Ill Children

Termination of Strict Diet in Phenylketonuria: Neurophysiological, Psychological and Biochemical Studies

Maternal Phenylketonuria

Prevalence of Adrenal 21-Hydroxylase Deficiency in Neonates Born in the West Midlands: a Retrospective Study

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia
Latest Publications