Suchergebnisse - "Yıldız, Yılmaz"

PubPharm (117)

1

Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury

enthalten in: CEN case reports | 2024

von Akar, H. | Yıldız, Y. | Mutluay, R. | +2

2

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

enthalten in: Journal of inherited metabolic disease | 2024

von Aldrian, D. | Waldner, B. | Vogel, G. | +20

3

Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study

enthalten in: European journal of medical genetics | 2024

von Köse, E. | Kasapkara, �. | İnci, A. | +6

4

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

enthalten in: Journal of inherited metabolic disease | 2024

von Julia-Palacios, N. | Kuseyri Hübschmann, O. | Olivella, M. | +19

5

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2024

von Yıldız, Y. | Ardıçlı, D. | Göçmen, R. | +5

6

Coexistence of Two Rare Conditions Complicating the Other's Management : Propionic Acidemia and Apert Syndrome

enthalten in: Molecular syndromology | 2024

von Ensert Cihan, C. | Akar, H. | Yıldız, Y. | +3

7

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias : Reflections from Turkey

enthalten in: Molecular genetics and metabolism | 2024

von Ersak, A. | Çak, H. | Yıldız, Y. | +7

8

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

enthalten in: Journal of Inherited Metabolic Disease | 2024

von Aldrian, D. | Waldner, B. | Vogel, G. | +20

9

Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

enthalten in: Molecular genetics and metabolism | 2023

von Çıkı, K. | Yıldız, Y. | Kahraman, A. | +5

10

A novel mutation in ATP13A2 gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy

enthalten in: Acta neurologica Belgica | 2023

von Inan, B. | Azman, F. | Aktas, D. | +2

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