Search Results: PHGDH


Phosphoglycerate dehydrogenase
Senin, 2026-03-02 23:12:35

Phosphoglycerate dehydrogenase (PHGDH) is an enzyme that catalyzes two individual chemical reactions. 3-phosphoglyceric acid + NAD+       H+   H+  ...

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D-glycerate dehydrogenase deficiency
Kamis, 2025-07-17 06:41:27

dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young...

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Neu–Laxova syndrome
Minggu, 2026-07-26 05:49:41

by homozygous or compound heterozygous mutations in one of three genes: PHGDH, PSAT1 and PSPH These genes are involved in the serine biosynthesis pathway...

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Ichthyosis
Selasa, 2026-08-18 09:41:58

ABHD5 Ichthyosis prematurity syndrome 608649 Autosomal recessive SLC27A4 Neu–Laxova syndrome 256520 616038 autosomal recessive PHGDH, PSAT1 and PSPH...

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Jason Locasale
Selasa, 2026-07-21 07:21:27

Wang, Qian; Liu, Ying; Lai, Luhua (2018-12-21). "Serine synthesis through PHGDH coordinates nucleotide levels by maintaining central carbon metabolism"...

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Ciliopathy
Kamis, 2026-07-02 04:01:27

(oral-facial-digital syndrome type 2) 252100 Neu–Laxova syndrome 256520 PHGDH, PSAT1, PSPH Opitz G/BBB syndrome 300000 MID1 Pallister–Hall syndrome 146510...

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List of human protein-coding genes 6
Senin, 2025-11-03 07:57:22

Q96EK2 12074 PHF23 HGNC:28428; Q9BUL5 12075 PHF24 HGNC:29180; Q9UPV7 12076 PHGDH HGNC:8923; O43175 12077 PHGR1 HGNC:37226; C9JFL3 12078 PHIP HGNC:15673;...

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List of OMIM disorder codes
Selasa, 2026-08-04 21:22:31

Pheochromocytoma; 171300; VHL Phosphoglycerate dehydrogenase deficiency; 601815; PHGDH Phosphoglycerate kinase 1 deficiency; 300653; PGK1 Phosphoribosylpyrophosphate...

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