UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Wolman disease successfully treated by bone marrow transplantation

Bone marrow transplantation (Basingstoke), 2000-09, Vol.26 (5), p.567-570

2000

Volltextzugriff (PDF)

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online

Human mutation, 1998, Vol.11 (5), p.411-412

1998

Volltextzugriff (PDF)

Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease

Clinical genetics, 1989-07, Vol.36 (1), p.38-42

1989

Volltextzugriff (PDF)

Further purification of the mitochondrial inner membrane autoantigen reacting with primary biliary cirrhosis sera

Immunology, 1974-02, Vol.26 (2), p.311-321

1974

Volltextzugriff (PDF)

Discrimination Between Metachromatic Leukodystrophy and Pseudo-Deficiency of Arylsulfatase A by Restriction Digest of Amplified Gene Fragments

The American journal of the medical sciences, 1995-02, Vol.309 (2), p.88-91

1995

Volltextzugriff (PDF)

Thermal activation of hexosaminidase A in a genetic compound with Tay‐Sachs disease

Journal of inherited metabolic disease, 1983-01, Vol.6 (3), p.95-100

1983

Volltextzugriff (PDF)

Immunological evidence for substrate-induced conformational alterations in human carbonic anhydrase B

The Journal of biological chemistry, 1976-08, Vol.251 (16), p.4867-4871

1976

Volltextzugriff (PDF)

Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations

American journal of human genetics, 1992-01, Vol.50 (1), p.137-144

1992

Volltextzugriff (PDF)

Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls

Biochemical journal, 1982-08, Vol.205 (2), p.419-425

1982

Volltextzugriff (PDF)

Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate

American journal of human genetics, 1985-07, Vol.37 (4), p.733-748

1985

Volltextzugriff (PDF)

On the Synthesis of Glutathione in Human Blood Cells In Vitro

Israel journal of chemistry, 1973, Vol.11 (4), p.573-586

1973

Volltextzugriff (PDF)

Prenatal Diagnosis of I-cell Disease in the First and Second Trimesters

The American journal of the medical sciences, 1989-06, Vol.297 (6), p.361-364

1989

Volltextzugriff (PDF)

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient

Human mutation, 1998, Vol.11 (5), p.411-412

1998

Volltextzugriff (PDF)

The interrelations between high- and low-molecular weight forms of normal and mutant (Krabbe-disease) galactocerebrosidase

Biochemical journal, 1980-07, Vol.189 (1), p.9-15

1980

Volltextzugriff (PDF)

Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation

Biochemical journal, 1986-05, Vol.235 (3), p.883-886

1986

Volltextzugriff (PDF)

Intrauterine fetal death due to Farber disease: case report

Pediatric and developmental pathology, 2000-11, Vol.3 (6), p.597-602

2000

Volltextzugriff (PDF)

Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease

Journal of clinical pathology, 1978-11, Vol.31 (11), p.1091-1093

1978

Volltextzugriff (PDF)

Catalytically defective ganglioside neuraminidase in mucolipidosis IV

Clinical genetics, 1982-06, Vol.21 (6), p.374-381

1982

Volltextzugriff (PDF)

Gaucher type 2 disease: Identification of a novel transversion mutation in a French-Irish patient

American journal of medical genetics, 1998-06, Vol.78 (1), p.92-93

1998

Volltextzugriff (PDF)

The nature of mutation in Krabbe disease

American journal of human genetics, 1978-11, Vol.30 (6), p.644-652

1978

Volltextzugriff (PDF)

Deficient phosphorylation of mannose residues of mannan in fibroblasts of patients with mucolipidoses II and III

Biochemical journal, 1981-02, Vol.193 (2), p.651-654

1981

Volltextzugriff (PDF)

Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis

The Journal of clinical investigation, 1974-01, Vol.53 (1), p.59-63

1974

Volltextzugriff (PDF)

Soluble and membranous neutral beta-glucosidases

Progress in clinical and biological research, 1982, Vol.95, p.465

1982

Volltextzugriff (PDF)

Binding of human liver hydrolases by immobilized lectins

Biochemical journal, 1979, Vol.177 (1), p.175-180

1979

Volltextzugriff (PDF)

Normal two-dimensional gel electrophoresis of alpha-2-macroglobulin in cystic fibrosis

American journal of human genetics, 1980-03, Vol.32 (2), p.273-275

1980

Volltextzugriff (PDF)

1 – 25 von 89

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(71)
Mit Volltextzugriff
(67)

Publikationsform

Artikel
(88)
Berichte
(1)

Sprache

Englisch
(89)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Wolman disease successfully treated by bone marrow transplantation

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online

Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease

Further purification of the mitochondrial inner membrane autoantigen reacting with primary biliary cirrhosis sera

Discrimination Between Metachromatic Leukodystrophy and Pseudo-Deficiency of Arylsulfatase A by Restriction Digest of Amplified Gene Fragments

Thermal activation of hexosaminidase A in a genetic compound with Tay‐Sachs disease

Immunological evidence for substrate-induced conformational alterations in human carbonic anhydrase B

Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations

Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls

Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate

On the Synthesis of Glutathione in Human Blood Cells In Vitro

Prenatal Diagnosis of I-cell Disease in the First and Second Trimesters

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient

The interrelations between high- and low-molecular weight forms of normal and mutant (Krabbe-disease) galactocerebrosidase

Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation

Intrauterine fetal death due to Farber disease: case report

Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease

Catalytically defective ganglioside neuraminidase in mucolipidosis IV

Gaucher type 2 disease: Identification of a novel transversion mutation in a French-Irish patient

The nature of mutation in Krabbe disease

Deficient phosphorylation of mannose residues of mannan in fibroblasts of patients with mucolipidoses II and III

Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis

Soluble and membranous neutral beta-glucosidases

Binding of human liver hydrolases by immobilized lectins

Normal two-dimensional gel electrophoresis of alpha-2-macroglobulin in cystic fibrosis

Suchergebnisse filtern