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Hyperpipecolic Acidemia
Known as:
Hyperpipecolatemia
, Hyperpipecolic Acidemias
, Acidemias, Hyperpipecolic
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A rare, autosomal recessive inherited metabolic disorder characterized by high levels of pipecolic acid in the blood, leading to neuropathy and…
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National Institutes of Health
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Related topics
Related topics
6 relations
Adrenoleukodystrophy, Neonatal
Infantile Refsum Disease (disorder)
Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, Multiple
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Broader (1)
Peroxisomal Disorders
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2000
2000
Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution
Matthias R. Baumgartner
,
G. Jansen
,
+8 authors
J. Saudubray
Annals of Neurology
2000
Corpus ID: 28947081
We describe an 18‐year‐old patient with psychomotor retardation and abnormally short metatarsi and metacarpals but no other signs…
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1999
1999
Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations.
M. Al-Essa
,
E. Chaves-Carballo
,
P. Ozand
Pediatric Neurology
1999
Corpus ID: 10692179
1990
1990
Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes.
J. Tager
,
S. Brul
,
+6 authors
A. Westerveld
Progress in clinical and biological research
1990
Corpus ID: 24277325
The peroxisomal diseases can be divided into three categories: 1) diseases in which morphologically distinguishable peroxisomes…
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1989
1989
Zellweger syndrome, retinal involvement.
B. Stanesu-Segal
,
P. Evrard
Metabolic, pediatric, and systemic ophthalmology
1989
Corpus ID: 6877891
Progresses in biochemistry permit one to distinguish three biochemical forms of Zellweger Syndrome: 1) hyperpipecolic acidemia, 2…
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1986
1986
The significance of hyperpipecolatemia in Zellweger syndrome.
J. Dancis
,
J. Hutzler
American Journal of Human Genetics
1986
Corpus ID: 45960343
The plasma pipecolic acid concentration in two newborn infants with Zellweger syndrome at ages 4 and 10 days were 7.8 and 7.7…
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Review
1986
Review
1986
Disorders related to the metabolism of phytanic acid.
O. Stokke
,
O. Skjeldal
,
K. Høie
Scandinavian journal of clinical and laboratory…
1986
Corpus ID: 25619817
The phytanic acid found in man stems from exogenous sources, mainly as minor parts of fish and animal fats. Free phytol, which is…
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1984
1984
High-performance liquid chromatography of amino acids in urine and cerebrospinal fluid.
S. Lam
,
H. Azumaya
,
A. Karmen
Journal of Chromatography A
1984
Corpus ID: 2616497
1983
1983
Pathologic Alterations in the Brain and Liver in Hyperpipecolic Acidemia
V. Challa
,
K. Geisinger
,
B. Burton
Journal of Neuropathology and Experimental…
1983
Corpus ID: 9213299
Pipecolic acid is a cyclic secondary imino acid produced in the metabolism of lysine. The metabolic role and fate of pipecolic…
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1981
1981
1105 HYPERPIPECOLIC ACIDEMIA (HPA): CLINICAL, BIOCHEMICAL AND PATHOLOGIC FEATURES
B. Burton
Pediatric Research
1981
Corpus ID: 25707956
HPA is a unique metabolic disorder previously described in only 2 unrelated infants. A 5 mo. old male (Pt. 2) was suspected of…
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1971
1971
Accumulation of lysine dipeptides in the brain in hyperpipecolatemia.
P. D. Gatfield
,
E. Taller
Brain Research
1971
Corpus ID: 5760516
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