Raili Kauppinen: search on Z-Library

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1

Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis

Henrik Nissen, Niels Erik Petersen, Sami Mustajoki, Torben Stiig Hansen, Pertti Mustajoki, Raili Kauppinen, Mogens Hørder

Journal:

Year:

1997

Language:

english

File:

PDF, 180 KB

english, 1997

2

Insertion of Alu element responsible for acute intermittent porphyria

Sami Mustajoki, Helena Ahola, Pertti Mustajoki, Raili Kauppinen

Journal:

Year:

1999

Language:

english

File:

PDF, 295 KB

english, 1999

3

Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria

Elena Pischik, Susanna Mehtälä, Raili Kauppinen

Journal:

Year:

2005

Language:

english

File:

PDF, 141 KB

english, 2005

4

Homozygous Variegate Porphyria: 20 y Follow-Up and Characterization of Molecular Defect

Kauppinen, Raili, Timonen, Kaisa, von, Mikael, Fraunberg, und zu, Laitinen, Eila, Ahola, Helena, Tenhunen, Raimo, Taketani, Shigeru, Mustajoki, Pertti

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 159 KB

english, 2001

5

Clinical features predictive of a poor prognosis in acute porphyria

Elena Pischik, Anton Bulyanitsa, Valery Kazakov, Raili Kauppinen

Journal:

Journal of Neurology

Year:

2004

Language:

english

File:

PDF, 162 KB

english, 2004

6

Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

S. Mustajoki, Hannele Pihlaja, Helena Ahola, Niels Erik Petersen, Pertti Mustajoki, Raili Kauppinen

Journal:

Year:

1998

Language:

english

File:

PDF, 179 KB

english, 1998

7

Four Novel Mutations in the Ferrochelatase Gene among Erythropoietic Protoporphyria Patients.

Henriksson, Matti, Timonen, Kaisa, Mustajoki, Pertti, Pihlaja, Hannele, Tenhunen, Raimo, Peltonen, Leena, Kauppinen, Raili

Journal:

The Journal of Investigative Dermatology

Year:

1996

File:

PDF, 1.60 MB

1996

8

Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients

von und zu Fraunberg, Mikael, Timonen, Kaisa, Mustajoki, Pertti, Kauppinen, Raili

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 133 KB

english, 2002

9

Can Pregnancy Stop Cyclical Attacks of Porphyria?

Elena Pischik, Raili Kauppinen

Journal:

The American Journal of Medicine

Year:

2006

Language:

english

File:

PDF, 229 KB

english, 2006

10

Porphyrias

Raili Kauppinen

Journal:

Year:

2005

Language:

english

File:

PDF, 273 KB

english, 2005

11

Vascular changes in erythropoietic protoporphyria: Histopathologic and immunohistochemical study

Kaisa Timonen, Arja-Leena Kariniemi, Kirsti-Maria Niemi, Anna-Maija Teppo, Raimo Tenhunen, Raili Kauppinen

Journal:

Journal of the American Academy of Dermatology

Year:

2000

Language:

english

File:

PDF, 453 KB

english, 2000

12

Treatment of the Porphyrias

Kauppinen, Raili, Timonen, Kaisa, Mustajoki, Pertti

Journal:

Annals of Medicine

Year:

1994

Language:

english

File:

PDF, 1.07 MB

english, 1994

13

Molecular diagnostics of acute intermittent porphyria

Kauppinen, Raili

Journal:

Expert Review of Molecular Diagnostics

Year:

2004

Language:

english

File:

PDF, 92 KB

english, 2004

14

Clinical and Biochemical Characteristics and Genotype-Phenotype Correlation in 143 Finnish and Russian Patients With Acute Intermittent Porphyria

Fraunberg, Mikael von und zu, Pischik, Elena, Udd, Lina, Kauppinen, Raili

Journal:

Medicine (Williams & Wilkins)

Year:

2005

Language:

english

File:

PDF, 547 KB

english, 2005

15

Prognosis of Acute Prophyria

Kauppinen, Raili, Mustajoki, Pertti

Journal:

Medicine (Williams & Wilkins)

Year:

1992

File:

PDF, 1.13 MB

1992

16

Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families

Kauppinen, Raili, {Von und zu Fraunberg}, Mikael

Journal:

Clinical Chemistry

Year:

2002

Language:

english

File:

PDF, 260 KB

english, 2002

17

An update of clinical management of acute intermittent porphyria

Pischik, Elena, Kauppinen, Raili

Journal:

The Application of Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 426 KB

english, 2015

18

FRI-442-Acute hepatic porphyria disease manifestations and daily life impacts in EXPLORE international, prospective, natural history study

Gouya, Laurent, Balwani, Manisha, Bissell, D Montgomery, Rees, David, Stölzel, Ulrich, Phillips, John, Kauppinen, Raili, Langendonk, Janneke, Desnick, Robert, Deybach, Jean Charles, Bonkovsky, Herbert

Journal:

Journal of Hepatology

Year:

2019

Language:

english

File:

PDF, 210 KB

english, 2019

19

Molecular and Biochemical Studies of Acute Intermittent Porphyria in 196 Patients and Their Families

Kauppinen, Raili, von und zu Fraunberg, Mikael

Journal:

Clinical Chemistry

Year:

2002

File:

PDF, 292 KB

2002