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51

Characterization of a mannose-containing glycoasparagine isolated from urine of a patient with aspartylglycosylaminuria (AGU)

Moriaki Akasaki, Kazuyuki Sugahara, Ikuo Funakoshi, Pertti Aula, Ikuo Yamashina

Journal:

Year:

1976

Language:

english

File:

PDF, 238 KB

english, 1976

52

Structural studies of glycoasparagines from urine of a patient with aspartylglycosylaminuria (AGU)

Kazuyuki Sugahara, Moriaki Akasaki, Ikuo Funakoshi, Pertti Aula, Ikuo Yamashina

Journal:

Year:

1977

Language:

english

File:

PDF, 207 KB

english, 1977

53

Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1)

Juha Mykkänen, Minna Toivonen, Maaria Kleemola, Marja-Liisa Savontaus, Olli Simell, Pertti Aula, Kirsi Huoponen

Journal:

Biochemical and Biophysical Research Communications

Year:

2003

Language:

english

File:

PDF, 222 KB

english, 2003

54

Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases

Anna Majander, Tarja Lamminen, Vesa Juvonen, Pertti Aula, Eeva Nikoskelainen, Marja-Liisa Savontaus, Mårten Wikström

Journal:

Year:

1997

Language:

english

File:

PDF, 427 KB

english, 1997

55

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder

Tarja T. Varho, Liisa E. Alajoki, Kristiina M. Posti, Tapio T. Korhonen, Martin G. Renlund, Samuel R.G. Nyman, Matti L. Sillanpää, Pertti P. Aula

Journal:

Pediatric Neurology

Year:

2002

Language:

english

File:

PDF, 161 KB

english, 2002

56

Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland

Päivi Meretoja, Kaisa Silander, Hannu Kalimo, Pertti Aula, Atte Meretoja, Marja-Liisa Savontaus

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 37 KB

english, 1997

57

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin

Nina Aula, Anu Jalanko, Pertti Aula, Leena Peltonen

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 725 KB

english, 2002

58

The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

Nina Aula, Pirjo Salomäki, Ritva Timonen, Frans Verheijen, Grazia Mancini, Jan-Eric Månsson, Pertti Aula, Leena Peltonen

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 213 KB

english, 2000

59

Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14

Tuija Lauteala, Pertti Sistonen, Marja-Liisa Savontaus, Juha Mykkänen, Jaakko Simell, Mari Lukkarinen, Olli Simell, Pertti Aula

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 508 KB

english, 1997

60

Lymphocytic inclusions in I-cell disease

Juhani Rapola, Seppo Autio, Pertti Aula, Veikko Nanto

Journal:

The Journal of Pediatrics

Year:

1974

Language:

english

File:

PDF, 1.39 MB

english, 1974

61

Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II)

Pertti Aula, Juhani Rapola, Seppo Autio, Kari Raivio, Olavi Karjalainen

Journal:

The Journal of Pediatrics

Year:

1975

Language:

english

File:

PDF, 4.35 MB

english, 1975

62

Morphology of the placenta in fetal I-cell disease

Juhani Rapola, Pertti Aula

Journal:

Clinical Genetics

Year:

1977

Language:

english

File:

PDF, 950 KB

english, 1977

63

Incomplete prenatal diagnosis of G-trisomy mosaicism

Kalle Simola, Pertti Aula, Markku Ryynänen, Harriet von Koskull

Journal:

Clinical Genetics

Year:

1978

Language:

english

File:

PDF, 217 KB

english, 1978

64

Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy

Huoponen, Kirsi, Vilkki, Johanna, Savontaus, Marja-Liisa, Aula, Pertti, Nikoskelainen, Eeva K.

Journal:

Year:

1990

Language:

english

File:

PDF, 284 KB

english, 1990

65

CHROMOSOMES AND VIRAL INFECTIONS

Journal:

Year:

1964

Language:

english

File:

PDF, 336 KB

english, 1964

66

[Part 1: Biological Sciences] || Regional Assignment of the Structural Gene for Human α -L-iduronidase

Edward H. Schuchman, Kenneth H. Astrin, Pertti Aula and Robert J. Desnick

Journal:

Proceedings of the National Academy of Sciences

Year:

1984

Language:

english

File:

PDF, 1.53 MB

english, 1984

67

'Salla Disease'

Journal:

Archives of Neurology

Year:

1979

Language:

english

File:

PDF, 2.04 MB

english, 1979

68

Prenatal Diagnosis of Congenital Nephrosis in 23 High-Risk Families

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1978

Language:

english

File:

PDF, 3.42 MB

english, 1978

69

[ACM Press the 2003 international conference - Pittsburgh, PA, USA (2003.06.23-2003.06.26)] Proceedings of the 2003 international conference on Designing pleasurable products and interfaces - DPPI '03 - Modeling the socio-cultural context

Aula, Pertti, Pekkala, Janne, Romppainen, Jenni

Year:

2003

Language:

english

File:

PDF, 108 KB

english, 2003

70

Enzymatic Diagnosis and Carrier Detection of Aspartylglucosaminuria Using Blood Samples

Aula, Pertti, Raivio, Kari, Autio, Seppo

Journal:

Pediatric Research

Year:

1976

Language:

english

File:

PDF, 498 KB

english, 1976

71

Pregnancy-Specific β-1-Glycoprotein (SP 1 ) in Culture Amniotic Fluid Cells*

HEIKINHEIMO, MARKKU, WAHLSTRÖM, TORSTEN, AULA, PERTTI, VIRTANEN, ISMO, SEPPÄLÄ, MARKKU

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1980

Language:

english

File:

PDF, 794 KB

english, 1980

72

Glial Origin Of Rapidly Adhering Amniotic Fluid Cells

Pertti Aula, Harriet Von Koskull, Kari Teramo, Olavi Karjalainen, Ismo Virtanen, Veli-Pekka Lehto and Doris Dahl

Journal:

The British Medical Journal

Year:

1980

Language:

english

File:

PDF, 1004 KB

english, 1980

73

Prenatal Diagnosis of Congenital Nephrosis in 23 High-Risk Families

AULA, PERTTI, RAPOLA, JUHANI, KARJALAINEN, OLAVI, LINDGREN, JAN, HARTIKAINEN, ANNA L., SEPPÄLÄ, MARKKU

Journal:

Obstetric and Gynecologic Survey

Year:

1979

File:

PDF, 67 KB

1979

74

PRENATAL DIAGNOSIS OF SALLA DISEASE (SD)

Renlund, Martin, Aula, Pertti

Journal:

Pediatric Research

Year:

1987

Language:

english

File:

PDF, 156 KB

english, 1987

75

Characterization of Two Glycoasparagines Isolated from the Urine of Patients with Aspartylglycosylaminuria (AGU)1

SUGAHARA, Kazuyuki, FUNAKOSHI, Susumu, FUNAKOSHI, Ikuo, AULA, Pertti, YAMASHINA, Ikuo

Journal:

Journal of Biochemistry

Year:

1975

Language:

english

File:

PDF, 1.53 MB

english, 1975

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