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Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients
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Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

Vianey-Saban, Christine ; Divry, Priscille ; Brivet, Michèle ; Nada, Mohamed ; Zabot, Marie-Thérèse ; Mathieu, Monique ; Roe, Charles

Clinica chimica acta, 1998-01, Vol.269 (1), p.43-62 [Periódico revisado por pares]

Shannon: Elsevier B.V

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2
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism
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Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism

Ilas, Josenato ; Mühl, Adolf ; Stöckler-Ipsiroglu, Sylvia

Clinica chimica acta, 2000-01, Vol.290 (2), p.179-188 [Periódico revisado por pares]

Shannon: Elsevier B.V

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3
Promoted expression of mast cell-specific proteases in IgE-dependent passive cutaneous anaphylaxis responses
Promoted expression of mast cell-specific proteases in IgE-dependent passive cutaneous anaphylaxis responses
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Promoted expression of mast cell-specific proteases in IgE-dependent passive cutaneous anaphylaxis responses

Park, Sung-Joo ; Cho, Sa-Sm ; Oh, Jay-Min ; Han, Myung-Kwan ; Song, Yong-Sun ; Bae, Hae-Rahn ; Yoo, Young-Hyun ; Kim, Hyung-Min

Clinica chimica acta, 2001-12, Vol.314 (1), p.231-236 [Periódico revisado por pares]

Shannon: Elsevier B.V

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4
Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency
Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency
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Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency

Fontaine, Monique ; Briand, Gilbert ; Ser, Nicole ; Armelin, Isabelle ; Rolland, Marie-Odile ; Degand, Pierre ; Vamecq, Joseph

Clinica chimica acta, 1996-11, Vol.255 (1), p.67-83 [Periódico revisado por pares]

Shannon: Elsevier B.V

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5
Cyclooxygenase pathway in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin
Cyclooxygenase pathway in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin
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Cyclooxygenase pathway in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin

Malle, Ernst ; Leis, Hans J. ; Steinmetz, Armin ; Paschke, Eduard ; Hoefler, Gerald

Clinica chimica acta, 1993-08, Vol.217 (2), p.205-212 [Periódico revisado por pares]

Shannon: Elsevier B.V

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6
Evaluation of standard tyrosinase RT-PCR in melanoma patients by the use of the LightCycler™ system
Evaluation of standard tyrosinase RT-PCR in melanoma patients by the use of the LightCycler™ system
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Evaluation of standard tyrosinase RT-PCR in melanoma patients by the use of the LightCycler™ system

Stoitchkov, Konstantin ; Letellier, Sabine ; Garnier, Jean-Pierre ; Toneva, Miglena ; Naumova, Elissaveta ; Peytcheva, Ekaterina ; Tzankov, Nikolai ; Bousquet, Bernard ; Morel, Patrice ; Le Bricon, Thierry

Clinica chimica acta, 2001-04, Vol.306 (1), p.133-138 [Periódico revisado por pares]

Shannon: Elsevier B.V

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7
3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method
3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method
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3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method

Wanders, Ronald J.A. ; Schutgens, Ruud B.H. ; Zoeters, Paul H.M.

Clinica chimica acta, 1988-01, Vol.171 (1), p.95-101 [Periódico revisado por pares]

Shannon: Elsevier B.V

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8
Elevated nucleotide pyrophosphatase activity in cultured skin fibroblasts from patients with Lowe's syndrome
Elevated nucleotide pyrophosphatase activity in cultured skin fibroblasts from patients with Lowe's syndrome
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Elevated nucleotide pyrophosphatase activity in cultured skin fibroblasts from patients with Lowe's syndrome

Horie, Kazutoshi ; Yano, Toshiro ; Funakoshi, Ikuo ; Yamashina, Ikuo

Clinica chimica acta, 1988-09, Vol.177 (1), p.41-48 [Periódico revisado por pares]

Shannon: Elsevier B.V

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9
Prolidase deficiency: characteristics of human skin fibroblast prolidase using colorimetric and fluorimetric assays
Prolidase deficiency: characteristics of human skin fibroblast prolidase using colorimetric and fluorimetric assays
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Prolidase deficiency: characteristics of human skin fibroblast prolidase using colorimetric and fluorimetric assays

Priestman, David A. ; Butterworth, John

Clinica chimica acta, 1984-09, Vol.142 (2), p.263-271 [Periódico revisado por pares]

Shannon: Elsevier B.V

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10
Prenatal diagnosis of krabbe disease using a fluorescent derivative of galactosylceramide
Prenatal diagnosis of krabbe disease using a fluorescent derivative of galactosylceramide
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Prenatal diagnosis of krabbe disease using a fluorescent derivative of galactosylceramide

Zeigler, M. ; Zlotogora, J. ; Regev, R. ; Dagan, A. ; Gatt, S. ; Bach, G.

Clinica chimica acta, 1984-10, Vol.142 (3), p.313-318 [Periódico revisado por pares]

Shannon: Elsevier B.V

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