Suchergebnisse - Argininosuccinic aciduria

1

Fluorometric Determination of Serum Argininosuccinic Acid with 2,3-Naphthalenedicarbaldehyde

von: Kashiwamura, Megumi

1985, in: Analytical sciences

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2

A Sensitive Fluorometric Determination of Erythrocyte and Serum Argininosuccinate Lyase Activities with 2,3-Naphthalenedicarbaldehyde

von: Miura, Toshiaki

1986, in: Analytical sciences

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3

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay

von: Yanyun Wang

2019, in: Frontiers in Genetics

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4

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

von: Martín-Hernández, Elena

2014, in: Orphanet journal of rare diseases

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5

NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study

von: Wen, Wei

2016, in: BMC medical genetics

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6

Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders

von: Soria, Leandro R

2020, in: EMBO Molecular Medicine

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7

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

von: Sunita Bijarnia-Mahay

2018, in: Orphanet Journal of Rare Diseases

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8

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

von: Bijarnia-Mahay, Sunita

2018, in: Orphanet journal of rare diseases

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9

Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report

von: Yoshimitsu Osawa

2020, in: Molecular Genetics and Metabolism Reports

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10

Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria

von: Ashley, Scott N.

2018, in: Molecular genetics and metabolism

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11

ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model

von: Owen Daly

2023, in: Biomedicines

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12

Ion chromatographic method for the determination of orotic acid in urine

von: Destanoğlu, Orhan

2018, in: Analytical biochemistry

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13

Creatine metabolism in urea cycle defects

von: Boenzi, Sara

2012, in: Journal of inherited metabolic disease

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14

Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders

von: Leandro R Soria

2021, in: EMBO Molecular Medicine

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15

The management and clinical outcomes of pregnancies in women with urea cycle disorders : a review of the literature and results of an international survey

von: Stepien, Karolina M.

09 December 2023, in: Journal of inherited metabolic disease

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16

From genotype to phenotype : early prediction of disease severity in argininosuccinic aciduria

von: Zielonka, Matthias

15 January 2020, in: Human mutation

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17

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

von: Posset, Roland

April 2024, in: Genetics in medicine

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18

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

von: Posset, Roland

7 November 2020, in: Molecular genetics and metabolism

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