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Deficiency of prolidase
Known as:
Hyperimidodipeptidurias
, Deficiencies, Imidodipeptidase
, Deficiency, Imidodipeptidase
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A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities…
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National Institutes of Health
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Related topics
Related topics
18 relations
Anemia
Autosomal recessive inheritance
Blepharoptosis
Congenital anomaly of face
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Structure analysis of human prolidase mutations gives insight into the prolidase deficiency disease mechanisms
P. Wilk
,
M. Ühlein
,
R. Piwowarczyk
,
H. Dobbek
,
M. Weiss
,
U. Mueller
Acta Crystallographica Section A: Foundations and…
2018
Corpus ID: 91560025
P. Wilk, M. Ühlein, H. Dobbek, M.S. Weiss, U. Mueller Helmholtz-Zentrum Berlin, Macromolecular Crys tal log ra phy (HZB-MX…
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2017
2017
A Case Of 13-Year-Old Girl With Prolidase Deficiency.
Arshad Khushdil
,
Fatima Murtaza
Journal of Ayub Medical College
2017
Corpus ID: 19111534
Prolidase deficiency is a rare autosomal recessive disorder characterized by recurrent and nonhealing skin ulcers along with…
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2015
2015
INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION.
Z. Kuloğlu
,
A. Kansu
,
+4 authors
K. Boztug
Genetic Counseling
2015
Corpus ID: 21949804
Prolidase deficiency (PD) is an inherited disorder associated with cutaneous ulcers, intellectual disability, unusual facial…
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2000
2000
Hereditärer Prolidasemangel Beitrag zur Differentialdiagnose therapieresistenter Beingeschwüre
R. Kasten
,
B. Steinmann
,
V. Voigtländer
Der Hautarzt
2000
Corpus ID: 8745029
ZusammenfassungUlcera crurum stellen ein ätiopathogenetisch besonders vielfältiges Symptom dar. Am häufigsten liegen…
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1990
1990
Ultrastructural Findings in prolidase deficiency
M. Fimiani
,
C. Alessandrini
,
L. Andreassi
1990
Corpus ID: 90164890
1986
1986
Plasma prolidase and prolinase activity in prolidase deficiency.
I. Myara
,
J. Stalder
Clinical Chemistry
1986
Corpus ID: 30897546
1982
1982
[Prolidase and manganese deficiency. Apropos of a case: diagnosis and treatment].
M. Larrèque
,
C. Charpentier
,
+5 authors
J. Tanzer
Annales de dermatologie et de vénéréologie
1982
Corpus ID: 37334524
Prolidase deficiency, transmitted on an autosomic recessive mode upsets skin healing and facilitates the occurrence of chronic…
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1982
1982
Normal hydroxylation of proline in collagen synthesized by skin fibroblasts from a patient with prolidase deficiency
Diana M. Royce
,
D. Danks
Journal of Inherited Metabolic Disease
1982
Corpus ID: 24561667
The extent of hydroxylation of proline in collagen synthesized and secreted into the culture medium by skin fibroblasts derived…
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1980
1980
[An inherent prolidase deficiency (author's transl)].
H. Kodama
,
S. Umemura
,
S. Mizuhara
Tanpakushitsu kakusan koso. Protein, nucleic acid…
1980
Corpus ID: 24267115
1965
1965
STUDIES ON DIPEPTIDASES AND AMINOPEPTIDASES. II. ZONAL ELECTROPHORETIC SEPARATION OF RAT LIVER PEPTIDASES.
E. K. Patterson
,
S. Hsiao
,
A. Keppel
,
S. Sorof
Journal of Biological Chemistry
1965
Corpus ID: 10951261
Progress in the study of the aminoand dipeptidases has been slow, particularly because of their lability, multiplicity, and lack…
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