Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).

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ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

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Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).

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Progressive hyperpigmentation ...... vitamin B12 metabolism (cblJ).

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Progressive hyperpigmentation ...... rror of vitamin B12 metabolism

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Progressive hyperpigmentation ...... vitamin B12 metabolism (cblJ).

@en

Progressive hyperpigmentation ...... rror of vitamin B12 metabolism

@nl

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Progressive hyperpigmentation ...... vitamin B12 metabolism (cblJ).

@en

Progressive hyperpigmentation ...... rror of vitamin B12 metabolism

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P1476

Progressive hyperpigmentation ...... vitamin B12 metabolism (cblJ)

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P2093

H-S Yang

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H-Y Chen

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J Y-Y Lee

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M A Simpson

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M Akiyama

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S-C Chao

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T Takeichi

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T-W Wong

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W-L Tsai

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P2860

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Inborn errors of cobalamin absorption and metabolism.

Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.

Dermatological findings of vitamin B12 deficiency and resolving time of these symptoms.

Hyperpigmentation of skin. A sign of vitamin-B12 deficiency.

KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

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scholarly article

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10.1111/BJD.13413

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English

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172

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Chao-Kai Hsu

J A McGrath

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2015-02-27T00:00:00Z

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25234635

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P921

hyperpigmentation

vitamin B

vitamin B12

Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).

about

P2860

P2860

Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).

description

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type

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P1433

P1476

P2093

P2860

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P356

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P2860

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P50

P577

P698

P921